ClinVar Miner

Variants from Mendelics with conflicting interpretations

Location: Brazil — Primary collection method: clinical testing
Minimum review status of the submission from Mendelics: Collection method of the submission from Mendelics:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

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

Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
4546 2195 43 963 982 19 448 2041

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
Mendelics pathogenic likely pathogenic uncertain significance likely benign benign association risk factor other
pathogenic 27 171 58 6 1 0 4 0
likely pathogenic 105 2 101 6 4 1 1 0
uncertain significance 133 65 10 369 182 1 3 2
likely benign 40 8 290 0 417 0 0 3
benign 58 17 208 270 4 0 3 3

Submitter to submitter summary #

Total submitters: 187
Download table as spreadsheet
Submitter Variants with only 1 submission per condition Variants with at least 2 submissions on the same condition and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any conflict
Invitae 0 1564 0 350 376 7 115 848
Illumina Clinical Services Laboratory,Illumina 0 575 0 201 265 0 30 496
Counsyl 0 601 0 132 82 1 40 255
OMIM 0 184 0 21 15 7 121 164
Sharing Clinical Reports Project (SCRP) 0 93 0 83 29 0 3 115
Breast Cancer Information Core (BIC) (BRCA2) 0 66 0 12 91 0 6 109
GeneReviews 0 74 37 11 3 0 52 103
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 93 0 87 14 0 0 101
Natera, Inc. 0 177 0 45 39 0 13 97
Breast Cancer Information Core (BIC) (BRCA1) 0 37 0 6 55 0 8 69
Integrated Genetics/Laboratory Corporation of America 0 224 2 36 10 0 18 66
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 45 0 54 9 0 1 64
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 97 0 42 3 0 1 46
Baylor Genetics 0 93 0 11 10 0 21 42
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 49 0 31 6 0 0 37
Michigan Medical Genetics Laboratories,University of Michigan 0 27 0 34 3 0 0 37
Institute of Human Genetics, University of Leipzig Medical Center 0 50 0 8 16 0 13 37
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 56 0 17 13 0 2 32
Quest Diagnostics Nichols Institute San Juan Capistrano 0 26 0 21 9 0 1 31
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 17 0 3 18 0 8 29
CSER _CC_NCGL, University of Washington 0 22 0 14 11 0 3 28
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 34 0 10 5 0 9 24
Ambry Genetics 0 55 0 5 15 0 3 23
Color Health, Inc 0 51 0 8 13 0 2 23
Johns Hopkins Genomics, Johns Hopkins University 0 45 0 7 7 0 9 23
Center for Human Genetics, Inc,Center for Human Genetics, Inc 0 16 0 6 12 0 4 22
Department of Pathology and Laboratory Medicine,Sinai Health System 0 32 0 12 6 0 2 20
Fulgent Genetics,Fulgent Genetics 0 68 0 7 9 0 3 19
Pathway Genomics 0 28 0 16 3 0 0 19
Genetic Services Laboratory, University of Chicago 0 26 0 8 1 1 8 18
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 58 0 10 3 1 3 17
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics,Children's Hospital of Philadelphia 0 15 0 7 6 0 4 17
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 25 0 4 2 0 11 17
GeneDx 0 66 0 9 7 0 0 16
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 0 19 2 4 9 0 1 16
Broad Institute Rare Disease Group, Broad Institute 0 20 0 5 7 0 4 16
SIB Swiss Institute of Bioinformatics 0 13 0 7 3 0 4 14
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 25 0 14 0 0 0 14
University of Washington Department of Laboratory Medicine, University of Washington 0 7 0 2 10 0 2 14
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 24 0 4 6 0 3 13
Institute of Human Genetics, Klinikum rechts der Isar 0 28 0 6 0 0 4 10
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 28 0 9 0 0 1 10
ClinGen CDH1 Variant Curation Expert Panel 0 6 0 3 7 0 0 10
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 6 1 1 7 0 0 9
PreventionGenetics, PreventionGenetics 0 22 0 5 4 0 0 9
Institute of Medical Molecular Genetics, University of Zurich 0 1 0 6 0 0 3 9
CeGaT Praxis fuer Humangenetik Tuebingen 0 21 0 0 8 0 1 9
Research and Development, ARUP Laboratories 0 17 0 3 2 0 4 9
CFTR-France 0 97 0 1 2 0 6 9
Myriad Women's Health, Inc. 0 77 0 5 0 0 4 9
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet 0 3 0 6 0 0 2 8
Reproductive Health Research and Development,BGI Genomics 0 19 0 2 4 0 2 8
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 18 0 5 0 0 2 7
NIHR Bioresource Rare Diseases, University of Cambridge 0 6 0 6 0 0 1 7
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 9 0 4 1 0 2 7
SingHealth Duke-NUS Institute of Precision Medicine 0 1 0 0 5 0 2 7
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 0 10 0 3 4 0 0 7
Athena Diagnostics Inc 0 7 0 6 0 0 0 6
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg 0 2 0 3 0 0 3 6
Leiden Open Variation Database 0 12 0 4 1 0 1 6
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 0 9 0 4 1 0 1 6
Centogene AG - the Rare Disease Company 0 9 0 1 0 0 4 5
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 13 0 2 3 0 0 5
Mayo Clinic Laboratories, Mayo Clinic 0 9 0 0 5 0 0 5
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 1 2 0 0 2 5
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 17 0 4 0 1 0 5
LDLR-LOVD, British Heart Foundation 0 2 0 1 1 0 3 5
UCLA Clinical Genomics Center, UCLA 0 1 0 2 0 0 3 5
Division of Human Genetics,Children's Hospital of Philadelphia 0 15 0 2 0 0 3 5
Laboratory of Genetics and Molecular Cardiology, University of São Paulo 0 2 0 0 2 0 3 5
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 15 0 2 2 0 1 5
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 0 2 0 0 0 0 5 5
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 5 0 0 5 0 0 5
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 0 3 0 3 1 0 1 5
ClinGen PTEN Variant Curation Expert Panel 0 5 0 2 2 0 1 5
Center for Medical Genetics Ghent,University of Ghent 0 3 0 1 3 0 0 4
Cancer Genetics Laboratory,Peter MacCallum Cancer Centre 0 11 0 1 3 0 0 4
Fundacion Hipercolesterolemia Familiar 0 0 0 0 3 0 1 4
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 14 0 3 0 0 1 4
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 8 0 1 1 0 2 4
Molecular Biology Laboratory, Fundació Puigvert 0 1 0 3 0 0 1 4
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 2 0 0 1 0 2 3
King Laboratory,University of Washington 0 2 0 0 0 0 3 3
Clinical Biochemistry Laboratory,Health Services Laboratory 0 2 0 0 3 0 0 3
PXE International 0 1 0 1 0 0 2 3
National Institute of Mental Health and Neurosciences 0 0 0 0 0 0 3 3
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 0 4 0 1 2 0 0 3
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 5 0 1 1 0 1 3
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 8 0 1 1 0 1 3
Department of Medical Genetics, University Hospital of North Norway 0 6 0 2 1 0 0 3
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 0 2 0 0 2 0 1 3
U4M - Lille University & CHRU Lille, Université de Lille - CHRU de Lille 0 1 0 0 0 0 3 3
Robarts Research Institute,Western University 0 0 0 1 1 0 1 3
Department of Laboratory Medicine and Genetics,Trillium Health Partners Credit Valley Hospital 0 3 0 1 0 0 2 3
Sharon lab,Hadassah-Hebrew University Medical Center 0 8 0 2 0 0 1 3
ClinGen PAH Variant Curation Expert Panel 0 3 0 2 1 0 0 3
Codex Genetics Limited 0 0 0 0 0 0 3 3
ClinGen TP53 Variant Curation Expert Panel,ClinGen 0 6 0 0 3 0 0 3
LifeCell International Pvt. Ltd 0 3 0 0 0 0 3 3
Genome Diagnostics Laboratory, The Hospital for Sick Children 0 11 0 2 0 0 0 2
Institute of Medical Genetics and Genomics,Sir Ganga Ram Hospital 0 1 0 1 0 0 1 2
Elsea Laboratory,Baylor College of Medicine 0 2 0 0 0 0 2 2
Division of Human Genetics,Medical University Innsbruck 0 4 0 2 0 0 0 2
Blueprint Genetics 0 3 0 1 0 1 0 2
Department of Ophthalmology and Visual Sciences Kyoto University 0 0 0 2 0 0 0 2
Department of Medical Genetics, Oslo University Hospital 0 9 0 1 0 0 1 2
Institute for Integrative and Experimental Genomics,University of Luebeck 0 0 0 2 0 0 0 2
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 2 0 0 0 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 4 0 1 0 0 1 2
Hadassah Hebrew University Medical Center 0 1 0 0 0 0 2 2
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 0 0 0 0 0 2 2
Medical Genetics, University of Parma 0 2 0 0 1 0 1 2
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 0 4 0 2 0 0 0 2
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 3 0 1 1 0 0 2
Center for Human Genetics and Laboratory Diagnostics, Dr. Klein, Dr. Rost and Colleagues 0 0 0 0 1 0 1 2
Undiagnosed Diseases Network,NIH 0 8 0 1 0 0 1 2
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation 0 0 0 0 0 0 2 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 3 0 2 0 0 0 2
Iberoamerican FH Network 0 0 0 0 2 0 0 2
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto 0 65 0 2 0 0 0 2
Ocular Genomics Institute, Massachusetts Eye and Ear 0 9 0 2 0 0 0 2
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 14 0 1 0 0 1 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 1 0 2 0 0 0 2
The ITHANET community portal, The Cyprus Institute of Neurology and Genetics 0 1 0 1 1 0 0 2
New York Genome Center 0 1 0 0 1 0 1 2
Nilou-Genome Lab 0 6 0 1 1 0 0 2
Molecular Genetics Diagnostic Laboratory,Detroit Medical Center University Laboratories 0 0 0 1 0 0 0 1
Claritas Genomics 0 0 0 0 1 0 0 1
Genetic Diagnostic Laboratory,University of Pennsylvania School of Medicine 0 0 0 0 0 0 1 1
Institute of Human Genetics,Cologne University 0 1 0 0 0 0 1 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 4 0 1 0 0 0 1
Molecular Vision Laboratory 0 0 0 0 0 1 0 1
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 0 8 0 0 0 0 1 1
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 0 1 0 0 1 0 0 1
CFTR2 0 107 0 1 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 9 0 1 0 0 0 1
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 30 0 0 0 0 1 1
Familial Cancer Clinic,Veneto Institute of Oncology 0 0 0 1 0 0 0 1
RettBASE 0 5 0 0 0 0 1 1
Unidad de Estudios Geneticos y Forenses,Instituto Venezolano de Investigaciones Cientificas 0 0 0 1 0 0 0 1
Department of Molecular and Human Genetics, Baylor College of Medicine 0 0 0 0 0 0 1 1
Chan Lab,Boston Children's Hospital 0 0 0 0 0 0 1 1
Service de Génétique Moléculaire,Hôpital Robert Debré 0 0 0 0 1 0 0 1
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 0 0 0 1 0 0 1
Pediatric Services,National Institutes of Health, Clinical Center 0 0 0 0 1 0 0 1
Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia,Universidade Católica de Brasília 0 0 0 0 0 0 1 1
Laboratory of Human Genetics,Universidade de São Paulo 0 0 0 1 0 0 0 1
Department of Internal Medicine, University of Texas Health Science Center at Houston 0 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 5 0 1 0 0 0 1
Russ Altman Lab,Stanford University 0 0 0 0 0 1 0 1
Aziz Sancar Institute of Experimental Medicine,Istanbul University 0 0 0 0 0 0 1 1
Cardiovascular Biomarker Research Laboratory,Mayo Clinic 0 0 0 0 1 0 0 1
Neurogenetics Laboratory,GH Pitie Salpetriere APHP 0 0 0 1 0 0 0 1
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 0 0 0 1 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 0 1 0 1 0 0 0 1
Database of Curated Mutations (DoCM) 0 4 0 0 0 0 1 1
Institute of Biochemistry, Molecular Biology and Biotechnology,University of Colombo 0 0 0 0 0 0 1 1
Department of Medical Genetics,Gazi University 0 0 0 1 0 0 0 1
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 0 0 0 1 0 0 0 1
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 2 0 0 1 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 0 0 0 1 0 0 0 1
Laboratory of Jean-Laurent Casanova,The Rockefeller University 0 0 0 1 0 0 0 1
Molecular Oncology Laboratory,Hospital Clínico San Carlos 0 3 0 1 0 0 0 1
Tolun Lab, Human Genetics Laboratory,Bogazici University 0 0 0 0 1 0 0 1
Human Molecular Genetics Laboratory,Federal University of Parana 0 0 0 1 0 0 0 1
True Health Diagnostics 0 2 0 0 1 0 0 1
Institute for Genomic Medicine, Nationwide Children's Hospital 0 0 0 0 0 0 1 1
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 2 0 1 0 0 0 1
College of Science, Al Muthanna University,Al Muthanna University 0 0 0 1 0 0 0 1
Consultorio y Laboratorio de Neurogenética,Hospital JM Ramos Mejia 0 1 0 0 0 0 1 1
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 1 0 1 0 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 0 0 1 0 0 0 1
University of Iowa Renal Genetics Clinic,University of Iowa 0 0 0 0 1 0 0 1
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 0 1 0 1 0 0 0 1
Laboratory of Inherited Metabolic Diseases, Research centre for medical genetics 0 0 0 1 0 0 0 1
Institute for Human Genetics, University Hospital Essen 0 0 0 1 0 0 0 1
Istituto Neurologico Mediterraneo,Istituto di Ricovero e Cura a Carattere Scientifico 0 0 0 0 0 0 1 1
Brunham Lab, Centre for Heart and Lung Innovation,University of British Columbia 0 1 0 0 0 0 1 1
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan 0 0 0 0 1 0 0 1
Division of Medical Genetics, University of Washington 0 10 0 0 0 0 1 1
Medical Genetics Laboratory,Tarbiat Modares University 0 0 0 0 0 0 1 1
Clinical Genomics Program, Stanford Medicine 0 2 0 0 1 0 0 1
CeMIA 0 0 0 0 1 0 0 1
Laboratory of Genetics in Ophthalmology,Institut Imagine 0 6 0 1 0 0 0 1
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 0 0 0 0 0 0 1 1
Angelo Bianchi Bonomi Hemophilia and Thrombosis Center,Fondazione IRCCS Ca Granda Ospedale Maggiore Policlinico 0 0 0 0 1 0 0 1
Pars Genome Lab 0 6 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 2041
Download table as spreadsheet
HGVS dbSNP
NG_042874.1(ACD)::g.5474del rs753666055
NM_000016.5(ACADM):c.698T>C (p.Ile233Thr) rs770273135
NM_000016.6(ACADM):c.201T>A (p.Tyr67Ter) rs754833969
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234
NM_000017.4(ACADS):c.511C>T (p.Arg171Trp) rs1800556
NM_000017.4(ACADS):c.625G>A (p.Gly209Ser) rs1799958
NM_000018.4(ACADVL):c.1367G>A (p.Arg456His) rs794727112
NM_000018.4(ACADVL):c.1600G>A (p.Glu534Lys) rs2230180
NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln) rs398123084
NM_000020.2(ACVRL1):c.88C>T (p.Pro30Ser) rs149664056
NM_000022.4(ADA):c.425G>A (p.Arg142Gln) rs61732239
NM_000030.3(AGXT):c.1020A>G (p.Ile340Met) rs4426527
NM_000030.3(AGXT):c.26C>A (p.Thr9Asn) rs115014558
NM_000030.3(AGXT):c.836T>C (p.Ile279Thr) rs140992177
NM_000032.5(ALAS2):c.1559C>T (p.Pro520Leu) rs201062903
NM_000033.4(ABCD1):c.1489-6del rs398123101
NM_000033.4(ABCD1):c.1816T>C (p.Ser606Pro) rs201774661
NM_000033.4(ABCD1):c.707G>A (p.Arg236His) rs201455322
NM_000033.4(ABCD1):c.757C>G (p.Leu253Val) rs150151955
NM_000037.4(ANK1):c.5544+91C>T rs72638959
NM_000038.6(APC):c.1139G>A (p.Arg380Gln) rs587782886
NM_000038.6(APC):c.1589T>C (p.Val530Ala) rs202199891
NM_000038.6(APC):c.1604C>T (p.Ser535Phe) rs75870842
NM_000038.6(APC):c.1606G>A (p.Glu536Lys) rs138098808
NM_000038.6(APC):c.1631T>C (p.Ile544Thr) rs144056494
NM_000038.6(APC):c.1959G>A (p.Arg653=) rs72541809
NM_000038.6(APC):c.1984C>A (p.Leu662Ile) rs756859993
NM_000038.6(APC):c.2204C>T (p.Ala735Val) rs147655929
NM_000038.6(APC):c.2593C>T (p.Pro865Ser) rs192620988
NM_000038.6(APC):c.2627G>A (p.Arg876Gln) rs373428732
NM_000038.6(APC):c.2805C>T (p.Tyr935=) rs137854575
NM_000038.6(APC):c.2847G>T (p.Met949Ile) rs147394539
NM_000038.6(APC):c.2948T>C (p.Ile983Thr) rs113674464
NM_000038.6(APC):c.295C>T (p.Arg99Trp) rs139196838
NM_000038.6(APC):c.3173A>G (p.Asp1058Gly) rs148725540
NM_000038.6(APC):c.3374T>C (p.Val1125Ala) rs377278397
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser) rs143638171
NM_000038.6(APC):c.3462AGA[2] (p.Glu1157del) rs386833391
NM_000038.6(APC):c.3479C>A (p.Thr1160Lys) rs201004111
NM_000038.6(APC):c.3511C>T (p.Arg1171Cys) rs201830995
NM_000038.6(APC):c.3529A>G (p.Ile1177Val) rs369834416
NM_000038.6(APC):c.3625G>A (p.Glu1209Lys) rs201185479
NM_000038.6(APC):c.388A>G (p.Ser130Gly) rs150973053
NM_000038.6(APC):c.3910A>G (p.Ile1304Val) rs770157475
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) rs1801166
NM_000038.6(APC):c.4237A>G (p.Met1413Val) rs141519952
NM_000038.6(APC):c.4336G>A (p.Ala1446Thr) rs146572883
NM_000038.6(APC):c.4372C>T (p.Pro1458Ser) rs143796828
NM_000038.6(APC):c.4765C>G (p.Arg1589Gly) rs72541813
NM_000038.6(APC):c.5009C>T (p.Ala1670Val) rs202228932
NM_000038.6(APC):c.5026A>G (p.Arg1676Gly) rs370560998
NM_000038.6(APC):c.5140G>A (p.Asp1714Asn) rs148275069
NM_000038.6(APC):c.5690A>C (p.His1897Pro) rs112610898
NM_000038.6(APC):c.5801C>T (p.Pro1934Leu) rs587780600
NM_000038.6(APC):c.5912C>G (p.Ser1971Cys) rs754691867
NM_000038.6(APC):c.607C>G (p.Gln203Glu) rs141576417
NM_000038.6(APC):c.6473C>G (p.Pro2158Arg) rs587779804
NM_000038.6(APC):c.6510A>C (p.Pro2170=) rs138571760
NM_000038.6(APC):c.6609T>C (p.Val2203=) rs149328018
NM_000038.6(APC):c.6724A>G (p.Ser2242Gly) rs201375478
NM_000038.6(APC):c.6821C>T (p.Ala2274Val) rs34919187
NM_000038.6(APC):c.6857C>T (p.Ala2286Val) rs200587641
NM_000038.6(APC):c.6873A>T (p.Gln2291His) rs148878262
NM_000038.6(APC):c.6965A>G (p.Gln2322Arg) rs1057517549
NM_000038.6(APC):c.7193C>T (p.Ser2398Phe) rs150882838
NM_000038.6(APC):c.7399C>A (p.Pro2467Thr) rs372305287
NM_000038.6(APC):c.7490C>T (p.Ser2497Leu) rs141010008
NM_000038.6(APC):c.7514G>A (p.Arg2505Gln) rs147549623
NM_000038.6(APC):c.7625A>G (p.Asn2542Ser) rs151163793
NM_000038.6(APC):c.7778A>G (p.Asn2593Ser) rs367676584
NM_000038.6(APC):c.7786T>G (p.Ser2596Ala) rs138137162
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys) rs72541816
NM_000038.6(APC):c.7888G>A (p.Val2630Ile) rs199688874
NM_000038.6(APC):c.8383G>A (p.Ala2795Thr) rs369264968
NM_000038.6(APC):c.8389A>G (p.Ser2797Gly) rs147287751
NM_000038.6(APC):c.848G>A (p.Arg283Gln) rs149154604
NM_000045.4(ARG1):c.923G>A (p.Arg308Gln) rs377280518
NM_000046.5(ARSB):c.98C>T (p.Ala33Val) rs201168448
NM_000048.4(ASL):c.1255_1256del (p.Leu419fs) rs757109353
NM_000048.4(ASL):c.392C>T (p.Thr131Met) rs143793815
NM_000050.4(ASS1):c.323G>T rs35269064
NM_000051.3(ATM):c.1229T>C (p.Val410Ala) rs56128736
NM_000051.3(ATM):c.1236-3del rs34325032
NM_000051.3(ATM):c.1237C>T (p.Leu413=) rs1565381686
NM_000051.3(ATM):c.1240C>T (p.Gln414Ter) rs866521873
NM_000051.3(ATM):c.1243A>T (p.Ile415Phe) rs1591522756
NM_000051.3(ATM):c.1272T>C (p.Pro424=) rs35578748
NM_000051.3(ATM):c.1541G>A (p.Gly514Asp) rs2235000
NM_000051.3(ATM):c.1744T>C (p.Phe582Leu) rs2235006
NM_000051.3(ATM):c.2096A>G (p.Glu699Gly) rs147934285
NM_000051.3(ATM):c.2362A>C (p.Ser788Arg) rs641252
NM_000051.3(ATM):c.2608A>G (p.Asn870Asp) rs61734354
NM_000051.3(ATM):c.2778A>G (p.Lys926=) rs372569168
NM_000051.3(ATM):c.2804C>T (p.Thr935Met) rs3218708
NM_000051.3(ATM):c.3077+4G>A rs201222237
NM_000051.3(ATM):c.3161C>G (p.Pro1054Arg) rs1800057
NM_000051.3(ATM):c.3342G>A (p.Lys1114=) rs138393322
NM_000051.3(ATM):c.4473C>T (p.Phe1491=) rs4988008
NM_000051.3(ATM):c.5558A>T (p.Asp1853Val) rs1801673
NM_000051.3(ATM):c.5712dup (p.Ser1905fs) rs587781730
NM_000051.3(ATM):c.6088A>G (p.Ile2030Val) rs145847315
NM_000051.3(ATM):c.609C>T (p.Asp203=) rs144709948
NM_000051.3(ATM):c.6315G>C (p.Arg2105Ser) rs587780632
NM_000051.3(ATM):c.6347+31del rs58978479
NM_000051.3(ATM):c.6355G>T (p.Val2119Leu) rs1266938537
NM_000051.3(ATM):c.640del (p.Ser214fs) rs786204543
NM_000051.3(ATM):c.6681C>T (p.Arg2227=) rs775850434
NM_000051.3(ATM):c.6919C>T (p.Leu2307Phe) rs56009889
NM_000051.3(ATM):c.7390T>C (p.Cys2464Arg) rs55801750
NM_000051.3(ATM):c.7788+8G>T rs112775908
NM_000051.3(ATM):c.8122G>A (p.Asp2708Asn) rs587782719
NM_000051.3(ATM):c.8592C>T (p.Tyr2864=) rs56025670
NM_000051.3(ATM):c.8671+9T>G rs200190537
NM_000051.3(ATM):c.8921C>T (p.Pro2974Leu) rs139379666
NM_000051.3(ATM):c.9079dup (p.Ser3027fs) rs587780645
NM_000051.3(ATM):c.998C>T (p.Ser333Phe) rs28904919
NM_000051.4(ATM):c.1010G>A (p.Arg337His) rs202160435
NM_000051.4(ATM):c.1066-6T>G rs201686625
NM_000051.4(ATM):c.125A>G (p.His42Arg) rs201773026
NM_000051.4(ATM):c.1444A>C (p.Lys482Gln) rs202173660
NM_000051.4(ATM):c.1595G>A (p.Cys532Tyr) rs35963548
NM_000051.4(ATM):c.1703G>T (p.Arg568Ile) rs200381392
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser) rs2227922
NM_000051.4(ATM):c.2021A>G (p.His674Arg) rs201762714
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu) rs34231402
NM_000051.4(ATM):c.2494C>T (p.Arg832Cys) rs2229022
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro) rs139552233
NM_000051.4(ATM):c.295A>G (p.Ser99Gly) rs137882485
NM_000051.4(ATM):c.3154-5C>T rs55719759
NM_000051.4(ATM):c.320G>A (p.Cys107Tyr) rs142358238
NM_000051.4(ATM):c.334G>A (p.Ala112Thr) rs146382972
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770
NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr) rs145119475
NM_000051.4(ATM):c.4148C>T (p.Ser1383Leu) rs141087784
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys) rs138327406
NM_000051.4(ATM):c.4402G>A (p.Val1468Ile) rs369903995
NM_000051.4(ATM):c.4414T>G (p.Leu1472Val) rs539676759
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys) rs34640941
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala) rs140856217
NM_000051.4(ATM):c.4802G>A (p.Ser1601Asn) rs587782506
NM_000051.4(ATM):c.496+4T>C rs587781375
NM_000051.4(ATM):c.5071A>C (p.Ser1691Arg) rs1800059
NM_000051.4(ATM):c.5185G>C (p.Val1729Leu) rs3092907
NM_000051.4(ATM):c.5753G>C (p.Arg1918Thr) rs148064985
NM_000051.4(ATM):c.5821G>C (p.Val1941Leu) rs147187700
NM_000051.4(ATM):c.5882A>G (p.Tyr1961Cys) rs56399311
NM_000051.4(ATM):c.5890A>G (p.Lys1964Glu) rs201963507
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr) rs150757822
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg) rs11212587
NM_000051.4(ATM):c.6176C>T (p.Thr2059Ile) rs144761622
NM_000051.4(ATM):c.6503C>T (p.Ser2168Leu) rs200431631
NM_000051.4(ATM):c.6820G>A (p.Ala2274Thr) rs567060474
NM_000051.4(ATM):c.6860G>C (p.Gly2287Ala) rs1800061
NM_000051.4(ATM):c.6975G>A (p.Ala2325=) rs556778314
NM_000051.4(ATM):c.6988C>G (p.Leu2330Val) rs148432863
NM_000051.4(ATM):c.7187C>G (p.Thr2396Ser) rs370559102
NM_000051.4(ATM):c.7313C>T (p.Thr2438Ile) rs147604227
NM_000051.4(ATM):c.749G>A (p.Arg250Gln) rs56123940
NM_000051.4(ATM):c.7740A>C (p.Arg2580Ser) rs199915459
NM_000051.4(ATM):c.7789-3T>G rs864622185
NM_000051.4(ATM):c.7875_7876delinsGC (p.Asp2625_Ala2626delinsGluPro) rs267606668
NM_000051.4(ATM):c.7913G>A (p.Trp2638Ter) rs377349459
NM_000051.4(ATM):c.8494C>T (p.Arg2832Cys) rs587779872
NM_000051.4(ATM):c.8560C>T (p.Arg2854Cys) rs201958469
NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys) rs587782292
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp) rs201199629
NM_000052.7(ATP7A):c.2903A>G (p.Glu968Gly) rs138958687
NM_000053.4(ATP7B):c.1995G>A (p.Met665Ile) rs72552259
NM_000053.4(ATP7B):c.2575+1G>A rs766149114
NM_000053.4(ATP7B):c.3061-12T>A rs1045194246
NM_000053.4(ATP7B):c.3101A>G (p.His1034Arg) rs74085882
NM_000053.4(ATP7B):c.3548C>G (p.Ala1183Gly) rs587783315
NM_000053.4(ATP7B):c.3620A>G (p.His1207Arg) rs7334118
NM_000053.4(ATP7B):c.3889G>A (p.Val1297Ile) rs148399850
NM_000053.4(ATP7B):c.4135C>T (p.Pro1379Ser) rs181250704
NM_000053.4(ATP7B):c.4301C>T (p.Thr1434Met) rs60986317
NM_000053.4(ATP7B):c.51+4A>T rs369488210
NM_000057.4(BLM):c.114A>G (p.Lys38=) rs770017301
NM_000057.4(BLM):c.11T>C (p.Val4Ala) rs144706057
NM_000057.4(BLM):c.1315A>G (p.Met439Val) rs201231857
NM_000057.4(BLM):c.1601A>G (p.Asn534Ser) rs35224686
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser) rs146077918
NM_000057.4(BLM):c.2263A>G (p.Lys755Glu) rs142551229
NM_000057.4(BLM):c.254G>C (p.Arg85Thr) rs141503266
NM_000057.4(BLM):c.2556-8T>C rs1567052156
NM_000057.4(BLM):c.274A>G (p.Asn92Asp) rs200690226
NM_000057.4(BLM):c.2898C>G (p.Leu966=) rs201220226
NM_000057.4(BLM):c.298_299del (p.Gln100fs) rs745807085
NM_000057.4(BLM):c.3041A>G (p.His1014Arg) rs145022945
NM_000057.4(BLM):c.3164G>A (p.Cys1055Tyr) rs367543029
NM_000057.4(BLM):c.3164G>C (p.Cys1055Ser) rs367543029
NM_000057.4(BLM):c.3613G>A (p.Val1205Ile) rs28385141
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr) rs1801256
NM_000057.4(BLM):c.3934G>A (p.Ala1312Thr) rs527291754
NM_000057.4(BLM):c.4076+4T>G rs183176301
NM_000057.4(BLM):c.4077-10C>T rs145310008
NM_000057.4(BLM):c.43C>T (p.Arg15Cys) rs148545569
NM_000059.3(BRCA2):c.-39-5del rs276174800
NM_000059.3(BRCA2):c.10076A>G (p.Glu3359Gly) rs80358389
NM_000059.3(BRCA2):c.1096T>G (p.Leu366Val) rs587779357
NM_000059.3(BRCA2):c.1123C>T (p.Pro375Ser) rs80358408
NM_000059.3(BRCA2):c.1247T>G (p.Ile416Ser) rs80358418
NM_000059.3(BRCA2):c.2127G>C (p.Leu709=) rs554040246
NM_000059.3(BRCA2):c.2138A>T (p.Gln713Leu) rs55816687
NM_000059.3(BRCA2):c.2755G>A (p.Glu919Lys) rs431825298
NM_000059.3(BRCA2):c.2771A>T (p.Asn924Ile) rs80358530
NM_000059.3(BRCA2):c.2803G>C (p.Asp935His) rs28897716
NM_000059.3(BRCA2):c.2946A>G (p.Ile982Met) rs80358541
NM_000059.3(BRCA2):c.3032C>G (p.Thr1011Arg) rs80358548
NM_000059.3(BRCA2):c.317-22C>T rs81002794
NM_000059.3(BRCA2):c.3299A>T (p.Asn1100Ile) rs80358575
NM_000059.3(BRCA2):c.3445A>G (p.Met1149Val) rs80358589
NM_000059.3(BRCA2):c.3568C>T (p.Arg1190Trp) rs80358604
NM_000059.3(BRCA2):c.3682A>G (p.Asn1228Asp) rs28897722
NM_000059.3(BRCA2):c.3715A>G (p.Lys1239Glu) rs374191973
NM_000059.3(BRCA2):c.3767A>C (p.His1256Pro) rs80358618
NM_000059.3(BRCA2):c.3814A>G (p.Met1272Val) rs80358624
NM_000059.3(BRCA2):c.3858_3860del (p.Lys1286del) rs80359406
NM_000059.3(BRCA2):c.4061C>T (p.Thr1354Met) rs80358656
NM_000059.3(BRCA2):c.4570T>G (p.Phe1524Val) rs56386506
NM_000059.3(BRCA2):c.4584C>T (p.Ser1528=) rs80359788
NM_000059.3(BRCA2):c.502C>A (p.Pro168Thr) rs80358726
NM_000059.3(BRCA2):c.517-4C>G rs81002804
NM_000059.3(BRCA2):c.5710C>G (p.Leu1904Val) rs55875643
NM_000059.3(BRCA2):c.5882G>A (p.Ser1961Asn) rs80358820
NM_000059.3(BRCA2):c.6057C>T (p.Asn2019=) rs147961615
NM_000059.3(BRCA2):c.6131G>T (p.Gly2044Val) rs56191579
NM_000059.3(BRCA2):c.631+25C>T rs367871824
NM_000059.3(BRCA2):c.6338A>G (p.Asn2113Ser) rs80358874
NM_000059.3(BRCA2):c.6362A>G (p.Glu2121Gly) rs397507846
NM_000059.3(BRCA2):c.6399_6401del (p.Asn2135del) rs80359581
NM_000059.3(BRCA2):c.6443C>A (p.Ser2148Tyr) rs80358880
NM_000059.3(BRCA2):c.6803G>A (p.Arg2268Lys) rs80358906
NM_000059.3(BRCA2):c.6842-19A>G rs81002865
NM_000059.3(BRCA2):c.6935A>T (p.Asp2312Val) rs80358916
NM_000059.3(BRCA2):c.6937+594T>G rs191253965
NM_000059.3(BRCA2):c.6938-1G>A rs886040936
NM_000059.3(BRCA2):c.7008-62A>G rs76584943
NM_000059.3(BRCA2):c.7307A>T (p.Asn2436Ile) rs80358955
NM_000059.3(BRCA2):c.742G>A (p.Ala248Thr) rs55854959
NM_000059.3(BRCA2):c.7522G>A (p.Gly2508Ser) rs80358978
NM_000059.3(BRCA2):c.7565C>T (p.Ser2522Phe) rs80358985
NM_000059.3(BRCA2):c.7618-19G>T rs371417084
NM_000059.3(BRCA2):c.7964A>G (p.Gln2655Arg) rs80359024
NM_000059.3(BRCA2):c.7976+12G>A rs81002827
NM_000059.3(BRCA2):c.7976+23C>T rs183623188
NM_000059.3(BRCA2):c.7992T>A (p.Ile2664=) rs80359800
NM_000059.3(BRCA2):c.8187G>T (p.Lys2729Asn) rs80359065
NM_000059.3(BRCA2):c.8350C>T (p.Arg2784Trp) rs80359075
NM_000059.3(BRCA2):c.8360G>A (p.Arg2787His) rs80359078
NM_000059.3(BRCA2):c.8487+8G>A rs81002838
NM_000059.3(BRCA2):c.8633-16C>G rs81002818
NM_000059.3(BRCA2):c.8668C>A (p.Leu2890Ile) rs80359127
NM_000059.3(BRCA2):c.8702G>A (p.Gly2901Asp) rs80359129
NM_000059.3(BRCA2):c.8764A>G (p.Ser2922Gly) rs80359132
NM_000059.3(BRCA2):c.8854A>G (p.Met2952Val) rs397508016
NM_000059.3(BRCA2):c.8918G>A (p.Arg2973His) rs80359143
NM_000059.3(BRCA2):c.8997G>A (p.Leu2999=) rs80359804
NM_000059.3(BRCA2):c.9043A>G (p.Lys3015Glu) rs587781497
NM_000059.3(BRCA2):c.9257-8C>T rs11571819
NM_000059.3(BRCA2):c.9275A>G (p.Tyr3092Cys) rs80359195
NM_000059.3(BRCA2):c.9374T>A (p.Leu3125His) rs80359209
NM_000059.3(BRCA2):c.9375C>G (p.Leu3125=) rs276174924
NM_000059.3(BRCA2):c.9501+9A>C rs81002867
NM_000059.3(BRCA2):c.956A>C (p.Asn319Thr) rs55939572
NM_000059.3(BRCA2):c.9634G>C (p.Gly3212Arg) rs55775473
NM_000059.3(BRCA2):c.9924C>T (p.Tyr3308=) rs4987049
NM_000059.3(BRCA2):c.9925G>A (p.Glu3309Lys) rs80359251
NM_000059.4(BRCA2):c.-39-12_-39-10del rs276174798
NM_000059.4(BRCA2):c.-41G>A rs879255312
NM_000059.4(BRCA2):c.10045A>G (p.Thr3349Ala) rs80358387
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=) rs28897762
NM_000059.4(BRCA2):c.10150C>T (p.Arg3384Ter) rs397507568
NM_000059.4(BRCA2):c.10202C>T (p.Thr3401Met) rs55853199
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) rs144848
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475
NM_000059.4(BRCA2):c.1181A>C (p.Glu394Ala) rs56016241
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys) rs4987046
NM_000059.4(BRCA2):c.1385A>G (p.Glu462Gly) rs56403624
NM_000059.4(BRCA2):c.1504A>C (p.Lys502Gln) rs276174809
NM_000059.4(BRCA2):c.1514T>C (p.Ile505Thr) rs28897708
NM_000059.4(BRCA2):c.1550A>G (p.Asn517Ser) rs80358439
NM_000059.4(BRCA2):c.1662T>G (p.Cys554Trp) rs80358451
NM_000059.4(BRCA2):c.1744A>C (p.Thr582Pro) rs80358457
NM_000059.4(BRCA2):c.1786G>C (p.Asp596His) rs56328701
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710
NM_000059.4(BRCA2):c.1820A>C (p.Lys607Thr) rs55962656
NM_000059.4(BRCA2):c.1909+22del rs276174816
NM_000059.4(BRCA2):c.1938C>T (p.Ser646=) rs28897711
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712
NM_000059.4(BRCA2):c.223G>C (p.Ala75Pro) rs28897701
NM_000059.4(BRCA2):c.2274T>G (p.Ser758Arg) rs142243359
NM_000059.4(BRCA2):c.231T>G (p.Thr77=) rs114446594
NM_000059.4(BRCA2):c.2350A>G (p.Met784Val) rs11571653
NM_000059.4(BRCA2):c.241T>A (p.Phe81Ile) rs80358507
NM_000059.4(BRCA2):c.2589T>A (p.Asn863Lys) rs80358521
NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn) rs28897716
NM_000059.4(BRCA2):c.280C>T (p.Pro94Ser) rs80358531
NM_000059.4(BRCA2):c.2883G>A (p.Gln961=) rs11571655
NM_000059.4(BRCA2):c.2918C>T (p.Ser973Leu) rs397507296
NM_000059.4(BRCA2):c.2987T>G (p.Leu996Arg) rs80358545
NM_000059.4(BRCA2):c.3055C>G (p.Leu1019Val) rs55638633
NM_000059.4(BRCA2):c.3088T>G (p.Phe1030Val) rs80358554
NM_000059.4(BRCA2):c.316+5G>A rs81002840
NM_000059.4(BRCA2):c.322A>C (p.Asn108His) rs80358567
NM_000059.4(BRCA2):c.3509C>T (p.Ala1170Val) rs80358599
NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu) rs80358600
NM_000059.4(BRCA2):c.3581G>A (p.Gly1194Asp) rs28897721
NM_000059.4(BRCA2):c.3910A>G (p.Thr1304Ala) rs28897723
NM_000059.4(BRCA2):c.4023A>C (p.Ser1341=) rs276174840
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=) rs28897724
NM_000059.4(BRCA2):c.4187A>G (p.Gln1396Arg) rs55969723
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727
NM_000059.4(BRCA2):c.425G>T (p.Ser142Ile) rs397507713
NM_000059.4(BRCA2):c.440A>G (p.Gln147Arg) rs80358674
NM_000059.4(BRCA2):c.4585G>A (p.Gly1529Arg) rs28897728
NM_000059.4(BRCA2):c.4670C>G (p.Thr1557Ser) rs80358698
NM_000059.4(BRCA2):c.4928T>C (p.Val1643Ala) rs28897731
NM_000059.4(BRCA2):c.4963del (p.Tyr1655fs) rs886040557
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755
NM_000059.4(BRCA2):c.5612G>A (p.Ser1871Asn) rs80358782
NM_000059.4(BRCA2):c.5634C>G (p.Asn1878Lys) rs80358784
NM_000059.4(BRCA2):c.5640T>G (p.Asn1880Lys) rs11571657
NM_000059.4(BRCA2):c.5729A>T (p.Asn1910Ile) rs276174863
NM_000059.4(BRCA2):c.5800C>T (p.Gln1934Ter) rs886040610
NM_000059.4(BRCA2):c.6039del (p.Val2014fs) rs876660637
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954
NM_000059.4(BRCA2):c.6290C>T (p.Thr2097Met) rs80358866
NM_000059.4(BRCA2):c.631G>A (p.Val211Ile) rs80358871
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His) rs35029074
NM_000059.4(BRCA2):c.6554C>T (p.Ala2185Val) rs980859921
NM_000059.4(BRCA2):c.68-7T>A rs81002830
NM_000059.4(BRCA2):c.6853A>G (p.Ile2285Val) rs56272235
NM_000059.4(BRCA2):c.6953G>A (p.Arg2318Gln) rs80358921
NM_000059.4(BRCA2):c.7150C>A (p.Gln2384Lys) rs55977008
NM_000059.4(BRCA2):c.7435+6G>A rs81002852
NM_000059.4(BRCA2):c.7463G>A (p.Arg2488Lys) rs80358968
NM_000059.4(BRCA2):c.7481G>A (p.Arg2494Gln) rs80358973
NM_000059.4(BRCA2):c.7504C>T (p.Arg2502Cys) rs55716624
NM_000059.4(BRCA2):c.7544C>T (p.Thr2515Ile) rs28897744
NM_000059.4(BRCA2):c.7712A>G (p.Glu2571Gly) rs55689095
NM_000059.4(BRCA2):c.7792GAA[1] (p.Glu2599del) rs80359682
NM_000059.4(BRCA2):c.793+1G>A rs81002846
NM_000059.4(BRCA2):c.7994A>G (p.Asp2665Gly) rs28897745
NM_000059.4(BRCA2):c.8092G>A (p.Ala2698Thr) rs80359052
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749
NM_000059.4(BRCA2):c.8351G>A (p.Arg2784Gln) rs80359076
NM_000059.4(BRCA2):c.8488-1G>A rs397507404
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro) rs11571746
NM_000059.4(BRCA2):c.8524C>T (p.Arg2842Cys) rs80359104
NM_000059.4(BRCA2):c.8647C>T (p.Pro2883Ser) rs80359122
NM_000059.4(BRCA2):c.8755-1G>A rs81002812
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_000059.4(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755
NM_000059.4(BRCA2):c.9041C>G (p.Ser3014Ter) rs80359156
NM_000059.4(BRCA2):c.9116C>T (p.Pro3039Leu) rs80359167
NM_000059.4(BRCA2):c.9235G>A (p.Val3079Ile) rs55933907
NM_000059.4(BRCA2):c.9242T>C (p.Val3081Ala) rs80359189
NM_000059.4(BRCA2):c.9271G>A (p.Val3091Ile) rs80359194
NM_000059.4(BRCA2):c.9292T>C (p.Tyr3098His) rs41293521
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759
NM_000059.4(BRCA2):c.9458G>C (p.Gly3153Ala) rs80359220
NM_000059.4(BRCA2):c.9501+3A>T rs61757642
NM_000059.4(BRCA2):c.9502-12T>G rs81002803
NM_000059.4(BRCA2):c.9645T>A (p.Leu3215=) rs755111487
NM_000059.4(BRCA2):c.964A>C (p.Lys322Gln) rs11571640
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg) rs28897706
NM_000059.4(BRCA2):c.9875C>T (p.Pro3292Leu) rs56121817
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833
NM_000059.4(BRCA2):c.9986A>G (p.Asn3329Ser) rs76635144
NM_000063.6(C2):c.954G>C (p.Glu318Asp) rs9332739
NM_000064.4(C3):c.1407G>C (p.Glu469Asp) rs11569422
NM_000067.3(CA2):c.754A>G (p.Asn252Asp) rs2228063
NM_000070.3(CAPN3):c.479C>G (p.Ala160Gly) rs17592
NM_000071.2(CBS):c.1316G>A (p.Arg439Gln) rs756467921
NM_000071.2(CBS):c.832_833insCTGGGGTGGATCATCCAGGTGGGGCTTTTGCTGGGCTTGAGCCCTGAAGCCGCGCCCTCTGCAGATCA
NM_000075.4(CDK4):c.122A>G (p.Asn41Ser) rs144890720
NM_000075.4(CDK4):c.763C>T (p.Arg255Cys) rs587778188
NM_000077.4(CDKN2A):c.150+37G>C rs45456595
NM_000077.4(CDKN2A):c.369T>A (p.His123Gln) rs6413463
NM_000077.4(CDKN2A):c.430C>T (p.Arg144Cys) rs116150891
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531
NM_000085.5(CLCNKB):c.610G>A rs121909132
NM_000088.3(COL1A1):c.1583G>A (p.Arg528His) rs144751329
NM_000088.3(COL1A1):c.1984-5C>A rs66592376
NM_000090.3(COL3A1):c.1550C>T (p.Pro517Leu) rs142085247
NM_000090.3(COL3A1):c.1804C>A (p.Pro602Thr) rs35795890
NM_000091.4(COL4A3):c.4421T>C (p.Leu1474Pro) rs200302125
NM_000093.5(COL5A1):c.1588G>A (p.Gly530Ser) rs61735045
NM_000096.4(CP):c.1652C>T (p.Thr551Ile) rs61733458
NM_000096.4(CP):c.2684G>C (p.Gly895Ala) rs139633388
NM_000098.3(CPT2):c.1883A>C (p.Tyr628Ser) rs28936673
NM_000109.4(DMD):c.1305C>T (p.Ser435=) rs1060502631
NM_000109.4(DMD):c.7547G>A (p.Arg2516His) rs151244052
NM_000110.3(DPYD):c.775A>G (p.Lys259Glu) rs45589337
NM_000110.4(DPYD):c.557A>G (p.Tyr186Cys) rs115232898
NM_000111.2(SLC26A3):c.2024_2026dup (p.Ile675dup) rs121913031
NM_000112.3(SLC26A2):c.229A>C (p.Asn77His) rs76784312
NM_000116.5(TAFAZZIN):c.383T>C (p.Phe128Ser) rs146934311
NM_000118.3(ENG):c.640G>A (p.Gly214Ser) rs150932144
NM_000122.1(ERCC3):c.325C>T (p.Arg109Ter) rs34295337
NM_000123.3(ERCC5):c.3428C>T (p.Ala1143Val) rs376411022
NM_000130.5(F5):c.3845A>G (p.His1282Arg) rs143333036
NM_000132.3(F8):c.1508G>A (p.Arg503His) rs35383156
NM_000132.3(F8):c.2994T>G (p.His998Gln) rs149853218
NM_000132.3(F8):c.6623A>G (p.Gln2208Arg) rs782198570
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751
NM_000135.4(FANCA):c.3348+7G>T rs185527578
NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro) rs41281202
NM_000136.3(FANCC):c.1394A>G (p.Gln465Arg) rs1800368
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457
NM_000136.3(FANCC):c.1663C>T (p.Arg555Ter) rs370974124
NM_000136.3(FANCC):c.178G>A (p.Val60Ile) rs138629441
NM_000136.3(FANCC):c.345+4AG[2] rs755657969
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg) rs140781259
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe) rs1800361
NM_000136.3(FANCC):c.817G>A (p.Glu273Lys) rs143181565
NM_000136.3(FANCC):c.934A>G (p.Ile312Val) rs1800366
NM_000137.3(FAH):c.1021C>T (p.Arg341Trp) rs11555096
NM_000138.4(FBN1):c.6610T>C (p.Cys2204Arg) rs1555395001
NM_000138.4(FBN1):c.8176C>T (p.Arg2726Trp) rs61746008
NM_000138.5(FBN1):c.2956G>A (p.Ala986Thr) rs112287730
NM_000138.5(FBN1):c.3058A>G (p.Thr1020Ala) rs111801777
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475
NM_000138.5(FBN1):c.5343G>A (p.Val1781=) rs140649
NM_000138.5(FBN1):c.6700G>A (p.Val2234Met) rs112084407
NM_000138.5(FBN1):c.986T>C (p.Ile329Thr) rs12324002
NM_000140.4(FECH):c.163G>T (p.Gly55Cys) rs3848519
NM_000140.4(FECH):c.315-48T>C rs2272783
NM_000141.5(FGFR2):c.1007A>G (p.Asp336Gly) rs1057519042
NM_000141.5(FGFR2):c.755C>T (p.Ser252Leu) rs79184941
NM_000142.5(FGFR3):c.1948A>C (p.Lys650Gln) rs78311289
NM_000143.4(FH):c.1237-50TC[20] rs144131869
NM_000143.4(FH):c.1237-50TC[21] rs144131869
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175
NM_000152.5(GAA):c.-32-13T>G rs386834236
NM_000152.5(GAA):c.2395C>T (p.His799Tyr) rs143347747
NM_000153.4(GALC):c.1403C>G (p.Thr468Ser) rs34134328
NM_000153.4(GALC):c.1685T>C (p.Ile562Thr) rs398607
NM_000153.4(GALC):c.334A>G (p.Thr112Ala) rs147313927
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855
NM_000154.2(GALK1):c.-22T>C rs545362817
NM_000154.2(GALK1):c.593C>T (p.Ala198Val) rs80084721
NM_000154.2(GALK1):c.863C>T (p.Thr288Met) rs759284637
NM_000155.2(GALT):c.-119_-116delGTCA rs111033640
NM_000155.4(GALT):c.100T>A (p.Tyr34Asn) rs111033836
NM_000155.4(GALT):c.820+13A>G rs111033768
NM_000155.4(GALT):c.864C>T (p.Asn288=) rs372134800
NM_000155.4(GALT):c.940A>G (p.Asn314Asp) rs2070074
NM_000159.4(GCDH):c.*165A>G rs8012
NM_000159.4(GCDH):c.*288G>T rs9384
NM_000159.4(GCDH):c.1144G>A (p.Ala382Thr) rs567564095
NM_000159.4(GCDH):c.1198G>A (p.Val400Met) rs121434372
NM_000159.4(GCDH):c.852+223C>T rs11085825
NM_000159.4(GCDH):c.91+5G>A rs952356983
NM_000161.3(GCH1):c.206C>T (p.Pro69Leu) rs56127440
NM_000163.5(GHR):c.484G>A (p.Val162Ile) rs6413484
NM_000166.6(GJB1):c.704T>G (p.Phe235Cys) rs104894825
NM_000168.6(GLI3):c.1393G>C (p.Gly465Arg) rs35488756
NM_000168.6(GLI3):c.2424A>G (p.Ile808Met) rs62622373
NM_000168.6(GLI3):c.341G>A (p.Arg114Lys) rs146458902
NM_000169.3(GLA):c.1117G>A (p.Gly373Ser) rs727504348
NM_000169.3(GLA):c.1153A>G (p.Thr385Ala) rs397515869
NM_000169.3(GLA):c.196G>C (p.Glu66Gln) rs104894833
NM_000169.3(GLA):c.352C>T (p.Arg118Cys) rs148158093
NM_000169.3(GLA):c.376A>G (p.Ser126Gly) rs149391489
NM_000169.3(GLA):c.427G>A (p.Ala143Thr) rs104894845
NM_000169.3(GLA):c.937G>T (p.Asp313Tyr) rs28935490
NM_000170.2(GLDC):c.1117C>T (p.Arg373Trp) rs150171524
NM_000170.2(GLDC):c.1229G>A (p.Arg410Lys) rs144090917
NM_000170.2(GLDC):c.2316-13dup rs3215923
NM_000170.2(GLDC):c.799C>G (p.Pro267Ala) rs1554648117
NM_000171.4(GLRA1):c.1108G>A (p.Gly370Ser) rs116474260
NM_000176.3(NR3C1):c.66G>A (p.Glu22=) rs6189
NM_000179.2(MSH6):c.1050C>T (p.Ala350=) rs730881802
NM_000179.2(MSH6):c.1186C>G (p.Leu396Val) rs2020908
NM_000179.2(MSH6):c.124C>T (p.Pro42Ser) rs34014629
NM_000179.2(MSH6):c.161G>C (p.Gly54Ala) rs63751098
NM_000179.2(MSH6):c.2633T>C (p.Val878Ala) rs2020912
NM_000179.2(MSH6):c.3151G>A (p.Val1051Ile) rs576269342
NM_000179.2(MSH6):c.3513T>C (p.Asp1171=) rs63749834
NM_000179.2(MSH6):c.4001+11_4001+15dup rs587779302
NM_000179.2(MSH6):c.457+13A>G rs1800933
NM_000179.3(MSH6):c.1019T>C (p.Phe340Ser) rs61753793
NM_000179.3(MSH6):c.116G>A (p.Gly39Glu) rs1042821
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala) rs63751005
NM_000179.3(MSH6):c.1875C>T (p.Ser625=) rs63749886
NM_000179.3(MSH6):c.3160A>T (p.Ile1054Phe) rs267608075
NM_000179.3(MSH6):c.3217C>T (p.Pro1073Ser) rs142254875
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.3936T>C (p.Val1312=) rs61753796
NM_000179.3(MSH6):c.3986C>T (p.Ser1329Leu) rs199594809
NM_000179.3(MSH6):c.4068_4071dup (p.Lys1358delinsAspTer) rs55740729
NM_000179.3(MSH6):c.431G>T (p.Ser144Ile) rs3211299
NM_000179.3(MSH6):c.457+32TG[12] rs397839804
NM_000181.4(GUSB):c.454G>A (p.Asp152Asn) rs149606212
NM_000185.4(SERPIND1):c.623G>A (p.Arg208His) rs5907
NM_000190.4(HMBS):c.-28A>C rs201349602
NM_000192.3(TBX5):c.316A>G (p.Ile106Val) rs147710408
NM_000192.3(TBX5):c.787G>A (p.Val263Met) rs147405081
NM_000203.5(IDUA):c.1225G>C (p.Gly409Arg) rs11934801
NM_000203.5(IDUA):c.245A>C (p.His82Pro) rs794727239
NM_000203.5(IDUA):c.246C>G (p.His82Gln) rs148775298
NM_000203.5(IDUA):c.53T>C (p.Leu18Pro) rs794726878
NM_000208.4(INSR):c.2243C>T (p.Ser748Leu) rs143523271
NM_000208.4(INSR):c.3034G>A (p.Val1012Met) rs1799816
NM_000209.4(PDX1):c.670G>A (p.Glu224Lys) rs137852787
NM_000211.5(ITGB2):c.1756C>T (p.Arg586Trp) rs5030672
NM_000211.5(ITGB2):c.329-6C>T rs9983887
NM_000215.3(JAK3):c.2773C>A (p.Arg925Ser) rs149452625
NM_000226.4(KRT9):c.1216T>C (p.Cys406Arg) rs77688767
NM_000232.4(SGCB):c.299T>A (p.Met100Lys) rs104893871
NM_000238.4(KCNH2):c.1039C>T (p.Pro347Ser) rs138776684
NM_000238.4(KCNH2):c.2843G>A (p.Arg948His) rs199473011
NM_000238.4(KCNH2):c.422C>T (p.Pro141Leu) rs199472864
NM_000238.4(KCNH2):c.442C>T (p.Arg148Trp) rs139544114
NM_000238.4(KCNH2):c.526C>T (p.Arg176Trp) rs36210422
NM_000243.2(MEFV):c.1318C>G (p.Gln440Glu) rs11466026
NM_000243.2(MEFV):c.1370C>T (p.Ala457Val) rs104895151
NM_000243.2(MEFV):c.1437C>G (p.Phe479Leu) rs104895083
NM_000243.2(MEFV):c.1894G>A (p.Gly632Ser) rs104895128
NM_000243.2(MEFV):c.1958G>A (p.Arg653His) rs104895085
NM_000243.2(MEFV):c.2038A>C (p.Met680Leu) rs104895089
NM_000243.2(MEFV):c.2064C>G (p.Tyr688Ter) rs104895098
NM_000243.2(MEFV):c.2084A>G rs104895094
NM_000243.2(MEFV):c.2230G>T rs61732874
NM_000243.2(MEFV):c.2292G>T (p.Gly764=) rs142352887
NM_000243.2(MEFV):c.250G>A (p.Glu84Lys) rs150819742
NM_000243.2(MEFV):c.501G>C (p.Glu167Asp) rs104895079
NM_000243.2(MEFV):c.586G>T (p.Gly196Trp) rs104895179
NM_000243.2(MEFV):c.688G>A (p.Glu230Lys) rs104895080
NM_000243.2(MEFV):c.800C>T (p.Thr267Ile) rs104895081
NM_000243.2(MEFV):c.926C>T (p.Thr309Met) rs104895155
NM_000243.3(MEFV):c.1730C>A rs1057516210
NM_000243.3(MEFV):c.2040G>A rs28940580
NM_000243.3(MEFV):c.2076_2078del (p.Ile692del) rs104895093
NM_000243.3(MEFV):c.2078TGA[1] (p.Met694del) rs104895091
NM_000243.3(MEFV):c.2080A>G rs61752717
NM_000243.3(MEFV):c.2082G>A rs28940578
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) rs104895097
NM_000243.3(MEFV):c.442G>C rs3743930
NM_000243.3(MEFV):c.726C>G (p.Ser242Arg) rs104895127
NM_000245.4(MET):c.1039G>A (p.Ala347Thr) rs200074800
NM_000245.4(MET):c.1076G>A (p.Arg359Gln) rs201274041
NM_000245.4(MET):c.110T>C (p.Val37Ala) rs201315884
NM_000245.4(MET):c.1715G>A (p.Ser572Asn) rs199771406
NM_000245.4(MET):c.2715C>T (p.Ser905=) rs45572835
NM_000245.4(MET):c.2908C>T (p.Arg970Cys) rs34589476
NM_000245.4(MET):c.406G>A (p.Val136Ile) rs199701987
NM_000245.4(MET):c.4087G>A (p.Ala1363Thr) rs45578433
NM_000245.4(MET):c.467C>T (p.Ser156Leu) rs56311081
NM_000245.4(MET):c.504G>T (p.Glu168Asp) rs55985569
NM_000245.4(MET):c.789G>A (p.Thr263=) rs554190225
NM_000245.4(MET):c.959C>T (p.Ala320Val) rs35776110
NM_000245.4(MET):c.967A>G (p.Ser323Gly) rs201467281
NM_000249.3(MLH1):c.-107C>G rs587778886
NM_000249.3(MLH1):c.1808C>G (p.Pro603Arg) rs63750876
NM_000249.3(MLH1):c.1963A>G (p.Ile655Val) rs55907433
NM_000249.3(MLH1):c.1990-6G>A rs117221851
NM_000249.3(MLH1):c.2101C>A (p.Gln701Lys) rs63750114
NM_000249.3(MLH1):c.2252A>G (p.Lys751Arg) rs140195825
NM_000249.3(MLH1):c.2262del (p.Arg755fs) rs267607904
NM_000249.3(MLH1):c.438A>G (p.Gln146=) rs377279035
NM_000249.3(MLH1):c.702G>A (p.Glu234=) rs35908749
NM_000249.3(MLH1):c.790+10A>G rs182733777
NM_000249.4(MLH1):c.-28A>G rs56198082
NM_000249.4(MLH1):c.1039-8T>A rs193922367
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn) rs41294980
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr) rs63750365
NM_000249.4(MLH1):c.1820T>A (p.Leu607His) rs41295284
NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr) rs63750449
NM_000249.4(MLH1):c.2066A>G (p.Gln689Arg) rs63750702
NM_000249.4(MLH1):c.65G>C (p.Gly22Ala) rs41295280
NM_000249.4(MLH1):c.885-21TC[2] rs267607804
NM_000250.2(MPO):c.752T>C (p.Met251Thr) rs56378716
NM_000250.2(MPO):c.995C>T (p.Ala332Val) rs28730837
NM_000251.2(MSH2):c.-68G>A rs576303132
NM_000251.2(MSH2):c.1255C>A (p.Gln419Lys) rs63750006
NM_000251.2(MSH2):c.1387-8G>T rs187525243
NM_000251.2(MSH2):c.1666T>C (p.Leu556=) rs61756466
NM_000251.2(MSH2):c.1680T>C (p.Asn560=) rs200056411
NM_000251.2(MSH2):c.2154A>G (p.Gln718=) rs63750810
NM_000251.2(MSH2):c.23C>T (p.Thr8Met) rs17217716
NM_000251.2(MSH2):c.2437A>G (p.Met813Val) rs63749841
NM_000251.2(MSH2):c.2714C>G (p.Thr905Arg) rs267608022
NM_000251.2(MSH2):c.274C>G (p.Leu92Val) rs587779154
NM_000251.2(MSH2):c.499G>C (p.Asp167His) rs63750255
NM_000251.2(MSH2):c.67T>C (p.Phe23Leu) rs372619120
NM_000251.2(MSH2):c.843A>T (p.Ser281=) rs150197753
NM_000251.2(MSH2):c.942+28_942+29del rs11309117
NM_000251.3(MSH2):c.1045C>G (p.Pro349Ala) rs267607939
NM_000251.3(MSH2):c.138C>G (p.His46Gln) rs33946261
NM_000251.3(MSH2):c.1511-41G>C rs202215396
NM_000251.3(MSH2):c.1511-9A>T rs12998837
NM_000251.3(MSH2):c.1690A>G (p.Thr564Ala) rs55778204
NM_000251.3(MSH2):c.1730T>C (p.Ile577Thr) rs63749910
NM_000251.3(MSH2):c.1787A>G (p.Asn596Ser) rs41295288
NM_000251.3(MSH2):c.2459-12A>G rs267608012
NM_000251.3(MSH2):c.273TCT[2] (p.Leu94del) rs267607919
NM_000251.3(MSH2):c.339G>A (p.Lys113=) rs35898375
NM_000251.3(MSH2):c.815C>T (p.Ala272Val) rs34136999
NM_000254.2(MTR):c.1559A>G (p.Tyr520Cys) rs1242741686
NM_000254.2(MTR):c.155G>A (p.Arg52Gln) rs12749581
NM_000255.4(MMUT):c.1495G>A (p.Ala499Thr) rs2229385
NM_000256.3(MYBPC3):c.1000G>A (p.Glu334Lys) rs573916965
NM_000256.3(MYBPC3):c.1246G>A (p.Gly416Ser) rs371513491
NM_000256.3(MYBPC3):c.1519G>A (p.Gly507Arg) rs35736435
NM_000256.3(MYBPC3):c.1855G>A (p.Glu619Lys) rs200352299
NM_000256.3(MYBPC3):c.223G>A (p.Asp75Asn) rs375471260
NM_000256.3(MYBPC3):c.2992C>G (p.Gln998Glu) rs11570112
NM_000256.3(MYBPC3):c.3065G>C (p.Arg1022Pro) rs397516000
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.3763G>A (p.Ala1255Thr) rs727503167
NM_000256.3(MYBPC3):c.530G>A (p.Arg177His) rs201012766
NM_000257.4(MYH7):c.2360G>A (p.Arg787His) rs376754645
NM_000257.4(MYH7):c.4909G>A (p.Ala1637Thr) rs141122361
NM_000257.4(MYH7):c.4992C>A (p.Asn1664Lys) rs763538103
NM_000257.4(MYH7):c.976G>C (p.Ala326Pro) rs372731424
NM_000260.4(MYO7A):c.2617C>T (p.Arg873Trp) rs200454015
NM_000260.4(MYO7A):c.5227C>T (p.Arg1743Trp) rs111033287
NM_000263.4(NAGLU):c.934G>A (p.Asp312Asn) rs1052471595
NM_000264.5(PTCH1):c.1306G>A (p.Asp436Asn) rs142274954
NM_000264.5(PTCH1):c.3241G>A (p.Val1081Met) rs587778629
NM_000264.5(PTCH1):c.4033C>T (p.Arg1345Cys) rs556901417
NM_000264.5(PTCH1):c.4219G>A (p.Gly1407Ser) rs56161606
NM_000267.3(NF1):c.1185+7G>C rs1322791959
NM_000267.3(NF1):c.2617C>T (p.Arg873Cys) rs199474739
NM_000267.3(NF1):c.3468C>T (p.Asn1156=) rs147955381
NM_000267.3(NF1):c.4111-8_4111-6del rs751729752
NM_000267.3(NF1):c.7126G>A (p.Gly2376Arg) rs1135402900
NM_000267.3(NF1):c.7532C>T (p.Ala2511Val) rs148154172
NM_000268.4(NF2):c.1340+8G>T rs370604189
NM_000268.4(NF2):c.1386C>T (p.Arg462=) rs138354622
NM_000268.4(NF2):c.1387G>A (p.Glu463Lys) rs74315503
NM_000268.4(NF2):c.1451T>C (p.Met484Thr) rs141538143
NM_000268.4(NF2):c.1540A>G (p.Met514Val) rs201527155
NM_000268.4(NF2):c.613A>G (p.Met205Val) rs141629512
NM_000271.5(NPC1):c.2292G>A (p.Ala764=) rs772565983
NM_000271.5(NPC1):c.2842G>A (p.Asp948Asn) rs1261939149
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257
NM_000271.5(NPC1):c.451_452del (p.Ser151fs) rs749012588
NM_000271.5(NPC1):c.57+4A>G rs1057519229
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166
NM_000275.3(OCA2):c.1441G>A (p.Ala481Thr) rs74653330
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857
NM_000277.3(PAH):c.158G>A (p.Arg53His) rs118092776
NM_000277.3(PAH):c.168+5G>A rs62507288
NM_000277.3(PAH):c.500A>G (p.Asn167Ser) rs77554925
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849
NM_000277.3(PAH):c.820A>G (p.Lys274Glu) rs142934616
NM_000282.4(PCCA):c.1676G>T (p.Trp559Leu) rs118169528
NM_000282.4(PCCA):c.843del (p.Asn281fs) rs1555400381
NM_000283.3(PDE6B):c.655T>C (p.Tyr219His) rs62295357
NM_000285.4(PEPD):c.977G>A (p.Trp326Ter) rs529315200
NM_000292.3(PHKA2):c.133C>T (p.Arg45Trp) rs1601781031
NM_000292.3(PHKA2):c.883C>T (p.Arg295Cys) rs797045008
NM_000295.4(SERPINA1):c.1093G>A (p.Asp365Asn) rs143370956
NM_000295.5(SERPINA1):c.514G>A (p.Gly172Arg) rs112030253
NM_000301.3(PLG):c.1858G>A (p.Ala620Thr) rs121918027
NM_000303.3(PMM2):c.640G>A (p.Gly214Ser) rs1555453238
NM_000304.4(PMP22):c.353C>T (p.Thr118Met) rs104894619
NM_000311.5(PRNP):c.246_269del (p.60_67PHGGGWGQ[3]) rs138688873
NM_000312.3(PROC):c.399C>T (p.Arg133=) rs200045749
NM_000312.3(PROC):c.565C>T (p.Arg189Trp) rs146922325
NM_000313.3(PROS1):c.119G>T (p.Arg40Leu) rs7614835
NM_000313.3(PROS1):c.1528G>A (p.Val510Met) rs138925964
NM_000313.3(PROS1):c.76+7A>G rs201928951
NM_000314.7(PTEN):c.-798G>C rs587779992
NM_000314.7(PTEN):c.344A>G (p.Asp115Gly) rs869312775
NM_000314.7(PTEN):c.599T>C (p.Phe200Ser) rs786204867
NM_000314.7(PTEN):c.71A>G (p.Asp24Gly) rs797044910
NM_000314.8(PTEN):c.1034T>G (p.Leu345Arg) rs1554826024
NM_000314.8(PTEN):c.210-7_210-3del rs587780544
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr) rs202004587
NM_000314.8(PTEN):c.882T>G (p.Ser294Arg) rs143335584
NM_000314.8(PTEN):c.94ATT[1] (p.Ile33del) rs1554893765
NM_000321.2(RB1):c.1129A>T (p.Thr377Ser) rs146897002
NM_000321.2(RB1):c.113G>A (p.Gly38Asp) rs766529534
NM_000321.2(RB1):c.1156A>G (p.Met386Val) rs564780653
NM_000321.2(RB1):c.1574C>G (p.Ala525Gly) rs4151539
NM_000321.2(RB1):c.1973C>A (p.Ala658Asp) rs587778834
NM_000321.2(RB1):c.2521-11G>A rs4151624
NM_000321.2(RB1):c.380+10C>G rs187110786
NM_000321.2(RB1):c.411A>T (p.Glu137Asp) rs3092902
NM_000321.3(RB1):c.2360G>A (p.Arg787Gln) rs748094394
NM_000321.3(RB1):c.2518G>A (p.Gly840Arg) rs374157786
NM_000321.3(RB1):c.2566G>A (p.Asp856Asn) rs149359120
NM_000321.3(RB1):c.59C>T (p.Pro20Leu) rs587778637
NM_000321.3(RB1):c.784C>T (p.Arg262Trp) rs556201144
NM_000321.3(RB1):c.929G>A (p.Gly310Glu) rs200844292
NM_000322.5(PRPH2):c.133C>T (p.Leu45Phe) rs61755770
NM_000322.5(PRPH2):c.136C>T (p.Arg46Ter) rs61755771
NM_000327.3(ROM1):c.868del (p.Gln290fs) rs548233813
NM_000329.3(RPE65):c.394G>A (p.Ala132Thr) rs61752878
NM_000335.4(SCN5A):c.2497G>A (p.Gly833Arg) rs45475899
NM_000335.4(SCN5A):c.3919C>T (p.Leu1307Phe) rs41313031
NM_000335.4(SCN5A):c.393-5C>A rs368678204
NM_000335.4(SCN5A):c.5870G>A (p.Arg1957Gln) rs199473331
NM_000335.4(SCN5A):c.694G>A (p.Val232Ile) rs45471994
NM_000335.5(SCN5A):c.1336G>A (p.Glu446Lys) rs199473339
NM_000335.5(SCN5A):c.1673A>G (p.His558Arg) rs1805124
NM_000335.5(SCN5A):c.1714G>T (p.Ala572Ser) rs184442491
NM_000335.5(SCN5A):c.1715C>T (p.Ala572Val) rs36210423
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys) rs45553235
NM_000335.5(SCN5A):c.3010T>C (p.Cys1004Arg) rs199473183
NM_000335.5(SCN5A):c.3068G>A (p.Arg1023His) rs199473592
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603
NM_000335.5(SCN5A):c.52C>T (p.Arg18Trp) rs199473044
NM_000335.5(SCN5A):c.5357G>A (p.Ser1786Asn) rs199473316
NM_000335.5(SCN5A):c.5708C>T (p.Ser1903Leu) rs150264233
NM_000335.5(SCN5A):c.677C>T (p.Ala226Val) rs199473561
NM_000336.3(SCNN1B):c.245C>G (p.Ser82Cys) rs35731153
NM_000337.5(SGCD):c.226G>T (p.Gly76Cys) rs376659221
NM_000338.3(SLC12A1):c.347G>A (p.Arg116His) rs34819316
NM_000342.3(SLC4A1):c.118G>A (p.Glu40Lys) rs45562031
NM_000342.4(SLC4A1):c.166A>G (p.Lys56Glu) rs5036
NM_000350.2(ABCA4):c.2588G>C rs76157638
NM_000350.2(ABCA4):c.5882G>A rs1800553
NM_000350.3(ABCA4):c.1294G>A (p.Glu432Lys) rs201117452
NM_000350.3(ABCA4):c.1622T>C (p.Leu541Pro) rs61751392
NM_000350.3(ABCA4):c.1846G>A (p.Glu616Lys) rs1557787473
NM_000350.3(ABCA4):c.3210_3211dup (p.Ser1071fs) rs387906385
NM_000350.3(ABCA4):c.3602T>G (p.Leu1201Arg) rs61750126
NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu) rs61750145
NM_000350.3(ABCA4):c.5381C>A (p.Ala1794Asp) rs61751406
NM_000350.3(ABCA4):c.5603A>T (p.Asn1868Ile) rs1801466
NM_000350.3(ABCA4):c.5714+5G>A rs61751407
NM_000350.3(ABCA4):c.6088C>T (p.Arg2030Ter) rs61751383
NM_000350.3(ABCA4):c.6148G>C (p.Val2050Leu) rs41292677
NM_000350.3(ABCA4):c.6238_6239del (p.Ser2080fs) rs281865382
NM_000350.3(ABCA4):c.6320G>A (p.Arg2107His) rs62642564
NM_000352.6(ABCC8):c.3203C>T (p.Thr1068Met) rs139524121
NM_000352.6(ABCC8):c.683G>A (p.Gly228Asp) rs863225280
NM_000359.3(TGM1):c.1552G>A (p.Val518Met) rs35312232
NM_000368.4(TSC1):c.2281T>C (p.Tyr761His) rs776386313
NM_000368.4(TSC1):c.2626-3C>T rs1060503192
NM_000368.5(TSC1):c.1250C>T (p.Thr417Ile) rs77464996
NM_000368.5(TSC1):c.1960C>G (p.Gln654Glu) rs75820036
NM_000368.5(TSC1):c.3184C>T (p.Arg1062Trp) rs118203745
NM_000370.3(TTPA):c.513_514insTT (p.Thr172fs) rs397515379
NM_000371.4(TTR):c.328C>A (p.His110Asn) rs121918074
NM_000371.4(TTR):c.416C>T (p.Thr139Met) rs28933981
NM_000372.5(TYR):c.1205G>A (p.Arg402Gln) rs1126809
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313
NM_000372.5(TYR):c.575C>A (p.Ser192Tyr) rs1042602
NM_000374.5(UROD):c.758T>A (p.Leu253Gln) rs36033115
NM_000383.4(AIRE):c.901G>A (p.Val301Met) rs150634562
NM_000384.3(APOB):c.3383G>A (p.Arg1128His) rs12713843
NM_000384.3(APOB):c.9835A>G (p.Ser3279Gly)
NM_000388.4(CASR):c.2915C>T (p.Thr972Met) rs200620134
NM_000388.4(CASR):c.748G>A (p.Glu250Lys) rs62269092
NM_000397.3(CYBB):c.1090G>C (p.Gly364Arg) rs141756032
NM_000399.5(EGR2):c.1352G>T (p.Gly451Val) rs138967272
NM_000400.3(ERCC2):c.1381C>G (p.Leu461Val) rs121913016
NM_000400.3(ERCC2):c.1905G>A (p.Ala635=) rs145835916
NM_000400.3(ERCC2):c.2150C>G (p.Ala717Gly) rs144564120
NM_000401.3(EXT2):c.1859C>T (p.Thr620Met) rs138495222
NM_000401.3(EXT2):c.359T>G (p.Met120Arg) rs140075817
NM_000401.3(EXT2):c.809C>T (p.Ser270Leu) rs139525250
NM_000402.4(G6PD):c.1039G>A (p.Glu347Lys) rs137852339
NM_000402.4(G6PD):c.185A>G (p.His62Arg) rs137852340
NM_000402.4(G6PD):c.221C>G (p.Ala74Gly) rs78478128
NM_000402.4(G6PD):c.233T>C (p.Ile78Thr) rs76645461
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829
NM_000402.4(G6PD):c.482G>T (p.Gly161Val) rs137852341
NM_000402.4(G6PD):c.556G>A (p.Glu186Lys) rs137852313
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868
NM_000402.4(G6PD):c.682C>T (p.Arg228Cys) rs137852330
NM_000426.3(LAMA2):c.1893_1897del (p.Asp631fs) rs746844753
NM_000426.3(LAMA2):c.2049_2050delAG rs202247790
NM_000430.4(PAFAH1B1):c.569-10T>C rs113994202
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897
NM_000435.3(NOTCH3):c.1490C>T (p.Ser497Leu) rs114207045
NM_000435.3(NOTCH3):c.328C>T (p.Arg110Cys) rs775836288
NM_000435.3(NOTCH3):c.3691C>T (p.Arg1231Cys) rs201680145
NM_000435.3(NOTCH3):c.4348G>A (p.Ala1450Thr) rs201082692
NM_000435.3(NOTCH3):c.4552C>A (p.Leu1518Met) rs141320511
NM_000435.3(NOTCH3):c.509A>G (p.His170Arg) rs147373451
NM_000436.4(OXCT1):c.112C>T (p.Arg38Cys) rs76956231
NM_000440.3(PDE6A):c.1957C>T (p.Arg653Ter) rs753942596
NM_000440.3(PDE6A):c.878C>T (p.Pro293Leu) rs114973968
NM_000441.2(SLC26A4):c.1061T>C (p.Phe354Ser) rs111033243
NM_000441.2(SLC26A4):c.2190G>T (p.Gln730His) rs142723249
NM_000441.2(SLC26A4):c.841G>A (p.Val281Ile) rs727505080
NM_000444.6(PHEX):c.1406C>A (p.Ala469Glu) rs375593493
NM_000444.6(PHEX):c.1586+3_1586+6del rs886042234
NM_000444.6(PHEX):c.591A>G (p.Gln197=) rs1556020818
NM_000453.3(SLC5A5):c.-54C>T rs112077649
NM_000454.4(SOD1):c.272A>C (p.Asp91Ala) rs80265967
NM_000455.4(STK11):c.-107dup rs927999961
NM_000455.4(STK11):c.-137C>T rs527710714
NM_000455.4(STK11):c.-461G>A rs552610464
NM_000455.4(STK11):c.1185A>G (p.Thr395=) rs370207155
NM_000455.4(STK11):c.374+9T>A rs762297795
NM_000455.4(STK11):c.426C>T (p.Ser142=) rs758448869
NM_000455.4(STK11):c.795G>A (p.Glu265=) rs730881963
NM_000455.4(STK11):c.825G>A (p.Pro275=) rs202011521
NM_000455.4(STK11):c.945G>A (p.Pro315=) rs376329042
NM_000455.5(STK11):c.1038C>T (p.Gly346=) rs767565606
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe) rs200078204
NM_000455.5(STK11):c.465-4G>A rs587780009
NM_000455.5(STK11):c.559G>A (p.Gly187Ser) rs587782032
NM_000455.5(STK11):c.842C>T (p.Pro281Leu) rs121913322
NM_000455.5(STK11):c.894C>A (p.Phe298Leu) rs199681533
NM_000465.4(BARD1):c.1075_1095del (p.Leu359_Pro365del) rs28997575
NM_000465.4(BARD1):c.1203T>C (p.Ser401=) rs370553043
NM_000465.4(BARD1):c.1347A>G (p.Gln449=) rs373257776
NM_000465.4(BARD1):c.1409A>G (p.Asn470Ser) rs587781976
NM_000465.4(BARD1):c.1690C>T (p.Gln564Ter) rs587780021
NM_000465.4(BARD1):c.1694G>A (p.Arg565His) rs146946984
NM_000465.4(BARD1):c.176_177del (p.Glu59fs) rs1057517589
NM_000465.4(BARD1):c.1972C>T (p.Arg658Cys) rs3738888
NM_000465.4(BARD1):c.1977A>G (p.Arg659=) rs147215925
NM_000465.4(BARD1):c.2191C>G (p.Arg731Gly) rs76744638
NM_000465.4(BARD1):c.33G>T (p.Gln11His) rs143914387
NM_000465.4(BARD1):c.346C>T (p.His116Tyr) rs144856889
NM_000465.4(BARD1):c.722C>G (p.Ser241Cys) rs3738885
NM_000475.5(NR0B1):c.376G>A (p.Val126Met) rs193205940
NM_000481.4(AMT):c.631G>A (p.Glu211Lys) rs116192290
NM_000487.6(ARSA):c.*96A>G rs6151429
NM_000487.6(ARSA):c.1055A>G (p.Asn352Ser) rs2071421
NM_000487.6(ARSA):c.1150G>A (p.Glu384Lys) rs74315479
NM_000487.6(ARSA):c.465+1G>A rs80338815
NM_000492.3(CFTR):c.1163C>T (p.Thr388Met) rs143860237
NM_000492.3(CFTR):c.1210-12T[5] rs1805177
NM_000492.3(CFTR):c.1301C>G (p.Ser434Ter) rs367934560
NM_000492.3(CFTR):c.1409_1418del (p.Val470fs) rs397508204
NM_000492.3(CFTR):c.1519A>G (p.Ile507Val) rs1801178
NM_000492.3(CFTR):c.164+2dup rs1554375870
NM_000492.3(CFTR):c.2079T>G (p.Phe693Leu) rs145540754
NM_000492.3(CFTR):c.2554dup (p.Tyr852fs) rs1057517068
NM_000492.3(CFTR):c.2620-15C>G rs139379077
NM_000492.3(CFTR):c.2735C>T (p.Ser912Leu) rs121909034
NM_000492.3(CFTR):c.2758G>A (p.Val920Met) rs373885282
NM_000492.3(CFTR):c.2846A>T (p.His949Leu) rs397508444
NM_000492.3(CFTR):c.2997_3000del (p.Leu999_Ile1000insTer) rs397508472
NM_000492.3(CFTR):c.3067_3072del (p.Ile1023_Val1024del) rs121908767
NM_000492.3(CFTR):c.3080T>C (p.Ile1027Thr) rs1800112
NM_000492.3(CFTR):c.3469-20T>C rs373002889
NM_000492.3(CFTR):c.3771T>G (p.Phe1257Leu) rs397508607
NM_000492.3(CFTR):c.4056G>C (p.Gln1352His) rs113857788
NM_000492.3(CFTR):c.488del (p.Lys163fs) rs1554379899
NM_000492.3(CFTR):c.650A>G (p.Glu217Gly) rs121909046
NM_000492.3(CFTR):c.853A>T (p.Ile285Phe) rs151073129
NM_000492.3(CFTR):c.91C>T (p.Arg31Cys) rs1800073
NM_000492.3(CFTR):c.958T>G (p.Leu320Val) rs144476686
NM_000492.4(CFTR):c.1043T>A (p.Met348Lys) rs142920240
NM_000492.4(CFTR):c.1117G>A (p.Asp373Asn) rs556880586
NM_000492.4(CFTR):c.1209+1G>T rs397508176
NM_000492.4(CFTR):c.1327G>T (p.Asp443Tyr) rs147422190
NM_000492.4(CFTR):c.137C>T (p.Ala46Val) rs151020603
NM_000492.4(CFTR):c.1399C>T (p.Leu467Phe) rs1800089
NM_000492.4(CFTR):c.14C>T (p.Pro5Leu) rs193922501
NM_000492.4(CFTR):c.1727G>C (p.Gly576Ala) rs1800098
NM_000492.4(CFTR):c.1766+3A>G rs397508298
NM_000492.4(CFTR):c.1766G>A (p.Ser589Asn) rs397508300
NM_000492.4(CFTR):c.1841A>G (p.Asp614Gly) rs201124247
NM_000492.4(CFTR):c.1853T>C (p.Ile618Thr) rs139468767
NM_000492.4(CFTR):c.1A>G (p.Met1Val) rs397508328
NM_000492.4(CFTR):c.2002C>T (p.Arg668Cys) rs1800100
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701
NM_000492.4(CFTR):c.2249C>T (p.Pro750Leu) rs140455771
NM_000492.4(CFTR):c.2260G>A (p.Val754Met) rs150157202
NM_000492.4(CFTR):c.2551C>T (p.Arg851Ter) rs121909012
NM_000492.4(CFTR):c.2657+2_2657+3insA rs397508414
NM_000492.4(CFTR):c.2706C>G (p.Ser902Arg) rs397508422
NM_000492.4(CFTR):c.2739T>A (p.Tyr913Ter) rs149790377
NM_000492.4(CFTR):c.274-6T>C rs371315549
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser) rs1800110
NM_000492.4(CFTR):c.292C>T (p.Gln98Ter) rs397508461
NM_000492.4(CFTR):c.2989-1G>A rs397508470
NM_000492.4(CFTR):c.2991G>C (p.Leu997Phe) rs1800111
NM_000492.4(CFTR):c.3154T>G (p.Phe1052Val) rs150212784
NM_000492.4(CFTR):c.3208C>T (p.Arg1070Trp) rs202179988
NM_000492.4(CFTR):c.3209G>A (p.Arg1070Gln) rs78769542
NM_000492.4(CFTR):c.326A>G (p.Tyr109Cys) rs121909031
NM_000492.4(CFTR):c.3294G>T (p.Trp1098Cys) rs397508533
NM_000492.4(CFTR):c.3299A>C (p.Gln1100Pro) rs397508535
NM_000492.4(CFTR):c.3368-2A>G rs755416052
NM_000492.4(CFTR):c.3410T>G (p.Met1137Arg) rs397508555
NM_000492.4(CFTR):c.3468G>A (p.Leu1156=) rs139729994
NM_000492.4(CFTR):c.3468G>T (p.Leu1156Phe) rs139729994
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000492.4(CFTR):c.3705T>G (p.Ser1235Arg) rs34911792
NM_000492.4(CFTR):c.3737C>T (p.Thr1246Ile) rs397508600
NM_000492.4(CFTR):c.3746G>A (p.Gly1249Glu) rs121909040
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167
NM_000492.4(CFTR):c.3841C>T (p.Gln1281Ter) rs397508615
NM_000492.4(CFTR):c.38C>T (p.Ser13Phe) rs397508635
NM_000492.4(CFTR):c.410T>C (p.Leu137Pro) rs397508674
NM_000492.4(CFTR):c.4136+1G>A rs1562928997
NM_000492.4(CFTR):c.4242+1G>T rs372227120
NM_000492.4(CFTR):c.4300_4301dup (p.Ser1435fs) rs397508709
NM_000492.4(CFTR):c.4333G>A (p.Asp1445Asn) rs148783445
NM_000492.4(CFTR):c.443T>C (p.Ile148Thr) rs35516286
NM_000492.4(CFTR):c.489+3A>G rs377729736
NM_000492.4(CFTR):c.509G>A (p.Arg170His) rs1800079
NM_000492.4(CFTR):c.53+1G>T rs397508746
NM_000492.4(CFTR):c.577G>A (p.Glu193Lys) rs397508759
NM_000492.4(CFTR):c.601G>A (p.Val201Met) rs138338446
NM_000492.4(CFTR):c.613C>T (p.Pro205Ser) rs121908803
NM_000492.4(CFTR):c.695T>A (p.Val232Asp) rs397508783
NM_000492.4(CFTR):c.772A>G (p.Arg258Gly) rs191456345
NM_000492.4(CFTR):c.825C>G (p.Tyr275Ter) rs193922532
NM_000492.4(CFTR):c.890G>A (p.Arg297Gln) rs143486492
NM_000492.4(CFTR):c.941G>A (p.Gly314Glu) rs75763344
NM_000500.9(CYP21A2):c.*13G>A rs6447
NM_000500.9(CYP21A2):c.1174G>A (p.Ala392Thr) rs202242769
NM_000500.9(CYP21A2):c.188A>T (p.His63Leu) rs9378252
NM_000500.9(CYP21A2):c.293-13C>G rs6467
NM_000500.9(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_000501.4(ELN):c.2132G>A (p.Gly711Asp) rs41511151
NM_000503.6(EYA1):c.1460C>T (p.Ser487Leu) rs139717960
NM_000503.6(EYA1):c.865G>T (p.Asp289Tyr) rs201504674
NM_000505.3(F12):c.1027G>C (p.Ala343Pro) rs183643295
NM_000507.4(FBP1):c.611_614del (p.Lys204fs) rs761470205
NM_000514.4(GDNF):c.448G>A (p.Asp150Asn) rs76466003
NM_000518.4(HBB):c.157G>A (p.Asp53Asn) rs33961886
NM_000518.4(HBB):c.68A>C (p.Glu23Ala) rs33936254
NM_000518.5(HBB):c.*96T>C rs34029390
NM_000518.5(HBB):c.20A>T (p.Glu7Val) rs334
NM_000518.5(HBB):c.315+16G>C rs10768683
NM_000518.5(HBB):c.93-23T>C rs111851677
NM_000520.6(HEXA):c.1510C>T (p.Arg504Cys) rs28942071
NM_000527.5(LDLR):c.2101G>A (p.Gly701Ser) rs368838866
NM_000527.5(LDLR):c.2282C>T (p.Thr761Met) rs138477254
NM_000527.5(LDLR):c.313+2T>C rs793888517
NM_000527.5(LDLR):c.507C>T (p.Asn169=) rs146354103
NM_000527.5(LDLR):c.828C>A (p.Cys276Ter) rs146651743
NM_000527.5(LDLR):c.970G>A (p.Gly324Ser)
NM_000531.6(OTC):c.298+5G>C rs72554348
NM_000531.6(OTC):c.809A>G (p.Gln270Arg) rs1800328
NM_000532.5(PCCB):c.1091-8_1091-3del rs1249235758
NM_000532.5(PCCB):c.1228C>T (p.Arg410Trp) rs121964959
NM_000532.5(PCCB):c.1490C>T (p.Ala497Val) rs142403318
NM_000532.5(PCCB):c.502G>A (p.Glu168Lys) rs121964960
NM_000532.5(PCCB):c.517_518del (p.Leu173fs) rs755776820
NM_000532.5(PCCB):c.683C>T (p.Pro228Leu) rs374722096
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629
NM_000535.7(PMS2):c.1437C>G (p.His479Gln) rs63750685
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.7(PMS2):c.1831dup (p.Ile611fs) rs63750250
NM_000535.7(PMS2):c.2149G>A (p.Val717Met) rs201671325
NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs) rs587779335
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn) rs143340522
NM_000535.7(PMS2):c.384G>A (p.Ser128=) rs371342884
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123
NM_000535.7(PMS2):c.706-4del rs60794673
NM_000535.7(PMS2):c.936G>A (p.Met312Ile) rs139194813
NM_000535.7(PMS2):c.953A>G (p.Tyr318Cys) rs139438201
NM_000536.4(RAG2):c.644C>T (p.Thr215Ile) rs35691292
NM_000539.3(RHO):c.173C>G (p.Thr58Arg) rs28933394
NM_000539.3(RHO):c.509C>G (p.Pro170Arg) rs1553781176
NM_000540.2(RYR1):c.10097G>A (p.Arg3366His) rs137932199
NM_000540.2(RYR1):c.11518G>A (p.Val3840Ile) rs140616359
NM_000540.2(RYR1):c.11798A>G (p.Tyr3933Cys) rs147136339
NM_000540.2(RYR1):c.13505A>G (p.Glu4502Gly) rs139647387
NM_000540.2(RYR1):c.1453A>G (p.Met485Val) rs147723844
NM_000540.2(RYR1):c.2677G>A (p.Gly893Ser) rs147336515
NM_000540.2(RYR1):c.2797G>A (p.Ala933Thr) rs148623597
NM_000540.2(RYR1):c.3127C>T (p.Arg1043Cys) rs111272095
NM_000540.2(RYR1):c.4178A>G (p.Lys1393Arg) rs137933390
NM_000540.2(RYR1):c.9758T>C (p.Ile3253Thr) rs375626634
NM_000540.3(RYR1):c.10616G>A (p.Arg3539His) rs143987857
NM_000540.3(RYR1):c.13513G>C (p.Asp4505His) rs150396398
NM_000540.3(RYR1):c.14693T>C (p.Ile4898Thr) rs118192170
NM_000540.3(RYR1):c.2122G>A (p.Asp708Asn) rs138874610
NM_000540.3(RYR1):c.4711A>G (p.Ile1571Val) rs146429605
NM_000540.3(RYR1):c.5036G>A (p.Arg1679His) rs146504767
NM_000540.3(RYR1):c.7025A>G (p.Asn2342Ser) rs147213895
NM_000540.3(RYR1):c.9713A>G (p.Glu3238Gly) rs200950673
NM_000545.6(HNF1A):c.92G>A (p.Gly31Asp) rs137853247
NM_000546.6(TP53):c.1010G>A (p.Arg337His) rs121912664
NM_000546.6(TP53):c.28G>A (p.Val10Ile) rs535274413
NM_000546.6(TP53):c.31G>C (p.Glu11Gln) rs201382018
NM_000546.6(TP53):c.396G>C (p.Lys132Asn) rs866775781
NM_000546.6(TP53):c.467G>A (p.Arg156His) rs371524413
NM_000546.6(TP53):c.642T>G (p.His214Gln) rs587781386
NM_000546.6(TP53):c.66A>G (p.Leu22=) rs748527030
NM_000546.6(TP53):c.718A>G (p.Ser240Gly) rs1567549584
NM_000546.6(TP53):c.797G>A (p.Gly266Glu) rs193920774
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) rs28934574
NM_000546.6(TP53):c.845G>C (p.Arg282Pro) rs730882008
NM_000546.6(TP53):c.869G>A (p.Arg290His) rs55819519
NM_000546.6(TP53):c.91G>A (p.Val31Ile) rs201753350
NM_000546.6(TP53):c.935C>G (p.Thr312Ser) rs145151284
NM_000548.3(TSC2):c.4527_4529delCTT (p.Phe1510del) rs137854239
NM_000548.5(TSC2):c.1378G>A (p.Ala460Thr) rs137854154
NM_000548.5(TSC2):c.1443+4C>T rs45517172
NM_000548.5(TSC2):c.1656A>G (p.Ala552=) rs373515515
NM_000548.5(TSC2):c.1819G>A (p.Ala607Thr) rs45517203
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met) rs45517238
NM_000548.5(TSC2):c.275A>T (p.Glu92Val) rs137853994
NM_000548.5(TSC2):c.5068+27_5069-47del
NM_000548.5(TSC2):c.5212del (p.Ser1738fs) rs1596460606
NM_000548.5(TSC2):c.538C>G (p.Leu180Val) rs45485591
NM_000551.3(VHL):c.235C>T (p.Arg79Cys) rs200885420
NM_000551.3(VHL):c.326T>A (p.Ile109Asn) rs398123482
NM_000551.3(VHL):c.538A>G (p.Ile180Val) rs377715747
NM_000551.3(VHL):c.556G>A (p.Glu186Lys) rs367545984
NM_000551.4(VHL):c.241C>T (p.Pro81Ser) rs104893829
NM_000552.4(VWF):c.3101_3103del (p.Thr1034del) rs368366214
NM_000553.6(WRN):c.3785C>G (p.Thr1262Arg) rs78488552
NM_000553.6(WRN):c.4216C>T (p.Arg1406Ter) rs11574410
NM_000618.5(IGF1):c.*263T>A rs70961704
NM_000642.3(AGL):c.2457_2460del (p.Gln820fs) rs1553187237
NM_000666.3(ACY1):c.1057C>T (p.Arg353Cys) rs121912698
NM_000726.4(CACNB4):c.311G>T (p.Cys104Phe) rs1805031
NM_000742.4(CHRNA2):c.140C>T (p.Thr47Met) rs74772771
NM_000781.3(CYP11A1):c.940G>A (p.Glu314Lys) rs6161
NM_000784.4(CYP27A1):c.1016C>T (p.Thr339Met) rs121908102
NM_000784.4(CYP27A1):c.1151C>T (p.Pro384Leu) rs41272687
NM_000834.5(GRIN2B):c.1721TCTTTG[1] (p.574VF[1]) rs1555111511
NM_000891.2(KCNJ2):c.1229A>G (p.Asn410Ser) rs141069645
NM_000941.3(POR):c.15A>G (p.Gly5=) rs10262966
NM_000969.5(RPL5):c.3+3G>C rs200628272
NM_000969.5(RPL5):c.629A>G (p.Tyr210Cys) rs11540832
NM_001002294.3(FMO3):c.923A>G (p.Glu308Gly) rs2266780
NM_001003800.2(BICD2):c.1993G>T (p.Val665Leu) rs587777885
NM_001005242.3(PKP2):c.1093A>G (p.Met365Val) rs143900944
NM_001005242.3(PKP2):c.1445C>T (p.Thr482Met) rs146882581
NM_001005242.3(PKP2):c.156G>A (p.Lys52=) rs201210997
NM_001005242.3(PKP2):c.1627G>A (p.Val543Ile) rs146102241
NM_001005242.3(PKP2):c.1930T>C (p.Ser644Pro) rs144601090
NM_001005242.3(PKP2):c.2260A>G (p.Thr754Ala) rs112592855
NM_001005242.3(PKP2):c.2299C>A (p.Arg767Ser) rs139734328
NM_001005242.3(PKP2):c.505A>G (p.Ser169Gly) rs139139859
NM_001005242.3(PKP2):c.76G>A (p.Asp26Asn) rs143004808
NM_001007792.1(NTRK1):c.123-3404C>T rs201472270
NM_001007792.1(NTRK1):c.163C>A (p.Arg55Ser) rs543320028
NM_001007792.1(NTRK1):c.1702C>T (p.His568Tyr) rs6336
NM_001007792.1(NTRK1):c.419T>C (p.Val140Ala) rs201503610
NM_001007792.1(NTRK1):c.775C>A (p.Gln259Lys) rs137979116
NM_001008212.2(OPTN):c.1634G>A (p.Arg545Gln) rs75654767
NM_001008212.2(OPTN):c.293T>A (p.Met98Lys) rs11258194
NM_001008216.2(GALE):c.770A>G (p.Lys257Arg) rs28940884
NM_001008537.3(NEXMIF):c.1882C>T (p.Arg628Ter) rs786205208
NM_001009944.3(PKD1):c.12826C>T (p.Arg4276Trp) rs114251396
NM_001009944.3(PKD1):c.6496C>T (p.Arg2166Cys) rs146096401
NM_001009944.3(PKD1):c.6749C>T (p.Thr2250Met) rs139971481
NM_001009944.3(PKD1):c.7430G>A (p.Arg2477His) rs556618384
NM_001009944.3(PKD1):c.8293C>T (p.Arg2765Cys) rs144979397
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys) rs1057518897
NM_001012515.3(FECH):c.68-23C>T rs2269219
NM_001018113.3(FANCB):c.1769T>C (p.Phe590Ser) rs142959373
NM_001024688.2(NBN):c.-141_-140del rs767454740
NM_001025295.3(IFITM5):c.-14C>T rs587776916
NM_001031726.3(C19orf12):c.424A>G (p.Lys142Glu) rs146170087
NM_001032386.2(SUOX):c.1388C>T (p.Ser463Phe) rs1565799921
NM_001032386.2(SUOX):c.1534G>T (p.Asp512Tyr) rs770792767
NM_001032386.2(SUOX):c.629C>T (p.Pro210Leu) rs141735896
NM_001033855.3(DCLRE1C):c.457G>A (p.Gly153Arg) rs41297018
NM_001035.3(RYR2):c.4652A>G (p.Asn1551Ser) rs185237690
NM_001035.3(RYR2):c.7493C>T (p.Ala2498Val) rs374191985
NM_001037.5(SCN1B):c.448+189C>A rs766373298
NM_001037.5(SCN1B):c.448+321G>A rs72558028
NM_001037333.3(CYFIP2):c.259C>T (p.Arg87Cys) rs1131692231
NM_001039.4(SCNN1G):c.547G>A (p.Gly183Ser) rs5736
NM_001039.4(SCNN1G):c.589G>A (p.Glu197Lys) rs5738
NM_001040142.2(SCN2A):c.2723A>G (p.Lys908Arg) rs2228980
NM_001040142.2(SCN2A):c.4565G>C (p.Gly1522Ala) rs147522594
NM_001040142.2(SCN2A):c.788C>T (p.Ala263Val) rs387906686
NM_001040716.2(PC):c.788G>A (p.Arg263Gln) rs769177104
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616
NM_001042492.3(NF1):c.1994C>T (p.Ser665Phe) rs145891889
NM_001042492.3(NF1):c.2033C>T (p.Pro678Leu) rs17881753
NM_001042492.3(NF1):c.3436G>A (p.Val1146Ile) rs201047812
NM_001042492.3(NF1):c.3831C>T (p.Gly1277=) rs1597722611
NM_001042492.3(NF1):c.4328C>T (p.Ser1443Leu) rs1555618566
NM_001042492.3(NF1):c.4834A>C (p.Arg1612=) rs755137259
NM_001042492.3(NF1):c.5045_5046del (p.Asn1681_Cys1682insTer) rs1597829906
NM_001042492.3(NF1):c.5235G>A (p.Lys1745=) rs17887014
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu) rs112306990
NM_001042492.3(NF1):c.5711A>C (p.Asn1904Thr) rs864622647
NM_001042492.3(NF1):c.5906A>T (p.Gln1969Leu) rs143502927
NM_001042492.3(NF1):c.7584A>G (p.Gln2528=) rs55865524
NM_001042492.3(NF1):c.8395G>A (p.Val2799Ile) rs377393842
NM_001048166.1(STIL):c.1455G>C (p.Leu485Phe) rs139912214
NM_001048171.1(MUTYH):c.1076C>T (p.Ala359Val) rs35352891
NM_001048171.1(MUTYH):c.1144+9A>T rs587780742
NM_001048171.1(MUTYH):c.534G>A (p.Lys178=) rs876660092
NM_001048171.1(MUTYH):c.672C>T (p.Asn224=) rs767327888
NM_001048171.1(MUTYH):c.929C>T (p.Ser310Leu) rs558173961
NM_001048171.1(MUTYH):c.956-9C>T rs3219488
NM_001048174.2(MUTYH):c.1174C>A (p.Leu392Met) rs144079536
NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys) rs150792276
NM_001048174.2(MUTYH):c.11C>T (p.Pro4Leu) rs79777494
NM_001048174.2(MUTYH):c.241C>T (p.Arg81Trp) rs765123255
NM_001048174.2(MUTYH):c.32G>A (p.Gly11Asp) rs75321043
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342
NM_001048174.2(MUTYH):c.493-5A>G rs758377868
NM_001048174.2(MUTYH):c.493-5A>T rs758377868
NM_001048174.2(MUTYH):c.637C>T (p.Arg213Trp) rs34126013
NM_001048174.2(MUTYH):c.652G>T (p.Val218Phe) rs587780749
NM_001048174.2(MUTYH):c.850-2A>G rs77542170
NM_001060.5(TBXA2R):c.179G>T (p.Arg60Leu) rs34377097
NM_001065.4(TNFRSF1A):c.224C>T (p.Pro75Leu) rs4149637
NM_001065.4(TNFRSF1A):c.362G>A (p.Arg121Gln) rs4149584
NM_001069.3(TUBB2A):c.743C>T (p.Ala248Val) rs2808001
NM_001079668.3(NKX2-1):c.1106C>T (p.Ala369Val) rs537209983
NM_001079802.2(FKTN):c.608G>A (p.Arg203Gln) rs34787999
NM_001079866.2(BCS1L):c.-50+405A>G rs898301590
NM_001082971.2(DDC):c.629C>T (p.Pro210Leu) rs6262
NM_001083116.3(PRF1):c.11G>A (p.Arg4His) rs35418374
NM_001083116.3(PRF1):c.1262T>G (p.Phe421Cys) rs200534908
NM_001083116.3(PRF1):c.148G>A (p.Val50Met) rs776299562
NM_001083116.3(PRF1):c.160C>T (p.Arg54Cys) rs200430442
NM_001083116.3(PRF1):c.272C>T (p.Ala91Val) rs35947132
NM_001083116.3(PRF1):c.632C>T (p.Ala211Val) rs368524364
NM_001089.3(ABCA3):c.1502C>A (p.Ala501Glu) rs141621969
NM_001089.3(ABCA3):c.367G>A (p.Asp123Asn) rs145087575
NM_001097577.3(ANG):c.122A>T (p.Lys41Ile) rs121909536
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001101.5(ACTB):c.617G>A (p.Arg206Gln) rs886039472
NM_001106.4(ACVR2B):c.119G>A (p.Arg40His) rs121434437
NM_001109878.2(TBX22):c.176-13C>A rs55760411
NM_001110556.2(FLNA):c.4451A>G (p.Gln1484Arg) rs200130356
NM_001110792.2(MECP2):c.1225G>A (p.Glu409Lys) rs56268439
NM_001110792.2(MECP2):c.1366G>A (p.Ala456Thr) rs61753975
NM_001110792.2(MECP2):c.62+1G>A rs786205048
NM_001110792.2(MECP2):c.626C>T (p.Thr209Met) rs61749714
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689
NM_001113378.1(FANCI):c.1813C>T (p.Leu605Phe) rs117125761
NM_001114636.1(FANCL):c.1111_1114dup (p.Thr372fs) rs759217526
NM_001114753.3(ENG):c.1844C>T (p.Ser615Leu) rs148002300
NM_001122764.3(PPOX):c.767C>G (p.Pro256Arg) rs12735723
NM_001126049.2(KLLN):c.-898G>A rs538728843
NM_001126108.2(SLC12A3):c.965C>T (p.Ala322Val) rs142679083
NM_001126131.2(POLG):c.1550G>T (p.Gly517Val) rs61752783
NM_001126131.2(POLG):c.1760C>T (p.Pro587Leu) rs113994096
NM_001126131.2(POLG):c.752C>T (p.Thr251Ile) rs113994094
NM_001127222.2(CACNA1A):c.4988G>A (p.Arg1663Gln) rs121908247
NM_001127511.3(APC):c.119G>C (p.Ser40Thr) rs587778028
NM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro) rs28931569
NM_001127701.1(SERPINA1):c.739C>T (p.Arg247Cys) rs28929470
NM_001127701.1(SERPINA1):c.839A>T (p.Asp280Val) rs121912714
NM_001127713.1(ATL1):c.1024C>G (p.Pro342Ala) rs1555365509
NM_001127713.1(ATL1):c.1160T>C (p.Leu387Ser) rs1595625010
NM_001127895.2(CHST8):c.229C>T (p.Arg77Trp) rs149660944
NM_001128425.1(MUTYH):c.161G>A (p.Cys54Tyr) rs560905645
NM_001128844.2(SMARCA4):c.2275-3C>A rs117611401
NM_001128849.2(SMARCA4):c.76G>A (p.Ala26Thr) rs145867502
NM_001128929.3(ROBO2):c.1592A>T (p.Asn531Ile) rs80051448
NM_001130987.2(DYSF):c.386G>A (p.Gly129Glu) rs34997054
NM_001130987.2(DYSF):c.3946A>G (p.Ile1316Val) rs121908954
NM_001130987.2(DYSF):c.6116G>A (p.Arg2039Gln) rs115407852
NM_001134363.3(RBM20):c.1603G>A (p.Val535Ile) rs183007628
NM_001134363.3(RBM20):c.2662G>A (p.Asp888Asn) rs201370621
NM_001134363.3(RBM20):c.3373G>A (p.Glu1125Lys) rs116908219
NM_001134363.3(RBM20):c.3545G>A (p.Arg1182His) rs563762318
NM_001134407.3(GRIN2A):c.2450T>C (p.Met817Thr) rs1064796608
NM_001134407.3(GRIN2A):c.2852G>T (p.Gly951Val) rs139795367
NM_001134407.3(GRIN2A):c.3827C>G (p.Ala1276Gly) rs145063086
NM_001134407.3(GRIN2A):c.547T>A (p.Phe183Ile) rs587780353
NM_001134831.2(AHI1):c.3196C>T (p.Arg1066Ter) rs780163791
NM_001135599.3(TGFB2):c.703G>C (p.Val235Leu) rs10482810
NM_001142633.2(PIK3R5):c.1885C>T (p.Pro629Ser) rs61761068
NM_001142800.2(EYS):c.1299+5_1299+8del rs1562140604
NM_001142800.2(EYS):c.1765A>G (p.Arg589Gly) rs778030177
NM_001142800.2(EYS):c.2500G>A (p.Val834Ile) rs112464110
NM_001142800.2(EYS):c.3329C>G (p.Thr1110Ser) rs143327210
NM_001142800.2(EYS):c.9299_9302del (p.Thr3100fs) rs769824975
NM_001146261.3(SYT14):c.807AGA[1] (p.Glu270del) rs2307890
NM_001148.6(ANK2):c.11791G>A (p.Glu3931Lys) rs45454496
NM_001148.6(ANK2):c.4315G>T (p.Gly1439Cys) rs34591340
NM_001160161.1(SCN5A):c.3228+1526G>A rs199473193
NM_001165963.4(SCN1A):c.1811G>A (p.Arg604His) rs121918769
NM_001165963.4(SCN1A):c.2350_2351del (p.Phe784fs) rs1553543215
NM_001165963.4(SCN1A):c.3521C>G (p.Thr1174Ser) rs121918799
NM_001165963.4(SCN1A):c.3749C>T (p.Thr1250Met) rs140731963
NM_001165963.4(SCN1A):c.3924A>T (p.Glu1308Asp) rs121917910
NM_001165963.4(SCN1A):c.4556C>T (p.Pro1519Leu) rs372425457
NM_001165963.4(SCN1A):c.4723C>T (p.Arg1575Cys) rs121918807
NM_001166114.2(PNPLA6):c.1457C>T (p.Pro486Leu) rs145191932
NM_001167617.2(MLH1):c.1206_1208del (p.Ile403del) rs587778920
NM_001167617.2(MLH1):c.1852G>A (p.Val618Met) rs35831931
NM_001168407.2(RIMS1):c.1536-963del rs587783021
NM_001171.5(ABCC6):c.2278C>T (p.Arg760Trp) rs72653788
NM_001171.5(ABCC6):c.3803G>A (p.Arg1268Gln) rs2238472
NM_001171.5(ABCC6):c.4069C>T (p.Arg1357Trp) rs63750428
NM_001171.5(ABCC6):c.742C>T (p.Leu248Phe) rs72653756
NM_001182.4(ALDH7A1):c.-80T>G rs563928852
NM_001194998.2(CEP152):c.4378_4379del (p.Val1460fs) rs141600901
NM_001195129.2(PRSS56):c.1795C>G (p.Pro599Ala) rs61744404
NM_001198536.1(MEFV):c.277+2004_277+2007dup rs104895138
NM_001199107.2(TBC1D24):c.641G>A (p.Arg214His) rs200324356
NM_001202.6(BMP4):c.455T>C (p.Val152Ala) rs17563
NM_001202.6(BMP4):c.860G>A (p.Arg287His) rs121912768
NM_001211.5(BUB1B):c.1649G>A (p.Arg550Gln) rs28989187
NM_001211.5(BUB1B):c.2763G>C (p.Gln921His) rs28989183
NM_001242897.2(DEPDC5):c.1870+3481C>T rs181347577
NM_001242897.2(DEPDC5):c.3030+3861C>T rs79027628
NM_001242897.2(DEPDC5):c.3383T>C (p.Ile1128Thr) rs200653339
NM_001242957.3(MAK):c.814C>T (p.Arg272Ter) rs753314164
NM_001252024.2(TRPM1):c.2149G>C (p.Ala717Pro) rs138944426
NM_001256071.3(RNF213):c.14429G>A (p.Arg4810Lys) rs112735431
NM_001258281.1(MSH2):c.744+25_744+29del rs11309117
NM_001267550.1(TTN):c.45599C>G rs201057307
NM_001267550.2(TTN):c.14984C>G (p.Pro4995Arg) rs72648927
NM_001267550.2(TTN):c.30274C>T (p.His10092Tyr) rs72650011
NM_001267550.2(TTN):c.3100G>A (p.Val1034Met) rs142951505
NM_001271.4(CHD2):c.1168A>G (p.Lys390Glu) rs1060503519
NM_001271.4(CHD2):c.3735dup (p.Tyr1246fs) rs752940775
NM_001271.4(CHD2):c.4173dup (p.Gln1392fs) rs749969667
NM_001271208.2(NEB):c.10612C>T (p.Arg3538Ter) rs779909544
NM_001271208.2(NEB):c.1674+2T>C rs1553603437
NM_001276345.2(TNNT2):c.692T>C (p.Ile231Thr) rs45520032
NM_001276345.2(TNNT2):c.862C>T (p.Arg288Cys) rs121964857
NM_001278074.1(COL5A1):c.3752dup (p.Pro1253fs) rs786205100
NM_001278716.2(FBXL4):c.1288C>T (p.Arg430Ter) rs758395213
NM_001278716.2(FBXL4):c.419T>C (p.Val140Ala) rs1057519447
NM_001282225.2(ADA2):c.139G>A (p.Gly47Arg) rs202134424
NM_001282531.3(ADNP):c.2156dup (p.Tyr719Ter) rs1135401808
NM_001289910.1(IDH2):c.263G>A (p.Arg88Gln) rs121913502
NM_001297.5(CNGB1):c.3115G>A (p.Gly1039Arg) rs148999583
NM_001308.3(CPN1):c.533G>A (p.Gly178Asp) rs61751507
NM_001317778.2(SFTPC):c.482G>A (p.Arg161Gln) rs34957318
NM_001323289.2(CDKL5):c.2389G>A (p.Asp797Asn) rs140313320
NM_001323289.2(CDKL5):c.65G>A (p.Gly22Glu) rs1602232972
NM_001324193.2(PANK2):c.-239G>C rs754521581
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
NM_001330260.2(SCN8A):c.2675T>G (p.Val892Gly) rs863225295
NM_001330260.2(SCN8A):c.5630A>G (p.Asn1877Ser) rs587780455
NM_001354689.3(RAF1):c.122G>A (p.Arg41Gln) rs145611571
NM_001358530.2(MOCS1):c.1015C>T (p.Arg339Trp) rs148579886
NM_001360.2(DHCR7):c.99-4G>A rs140748737
NM_001360016.2(G6PD):c.968T>C (p.Leu323Pro) rs76723693
NM_001363118.2(SLC52A2):c.353C>A (p.Ala118Asp) rs117500243
NM_001363118.2(SLC52A2):c.383C>T (p.Ser128Leu) rs374071862
NM_001363711.2(DUOX2):c.2182G>A (p.Ala728Thr) rs138353181
NM_001364905.1(LRBA):c.5906G>C (p.Gly1969Ala) rs745608560
NM_001364905.1(LRBA):c.7879T>C (p.Trp2627Arg) rs200295901
NM_001365276.2(TNXB):c.12224G>A (p.Arg4075His) rs201510617
NM_001365304.1(LOC112694756):c.*1548G>A rs138824667
NM_001365536.1(SCN9A):c.3767A>G (p.Asn1256Ser) rs141268327
NM_001367561.1(DOCK7):c.1333C>T (p.Arg445Ter) rs758111714
NM_001367721.1(CASK):c.82C>T (p.Arg28Ter) rs587783370
NM_001370259.2(MEN1):c.-22C>A rs374749001
NM_001370259.2(MEN1):c.1618C>T (p.Pro540Ser) rs745404679
NM_001370259.2(MEN1):c.1664G>A (p.Ser555Asn) rs863224527
NM_001370259.2(MEN1):c.511C>T (p.Arg171Trp) rs143329068
NM_001370259.2(MEN1):c.655-6C>G rs77461664
NM_001370466.1(NOD2):c.2641G>C (p.Gly881Arg) rs2066845
NM_001370466.1(NOD2):c.2938dup (p.Leu980fs) rs2066847
NM_001370658.1(BTD):c.1270G>C (p.Asp424His) rs13078881
NM_001370658.1(BTD):c.1308A>C (p.Gln436His) rs80338685
NM_001370658.1(BTD):c.1395C>G (p.His465Gln) rs201604102
NM_001370658.1(BTD):c.1569C>A (p.Asp523Glu) rs146136265
NM_001370658.1(BTD):c.250-15del rs587783008
NM_001370658.1(BTD):c.281G>T (p.Gly94Val) rs375712490
NM_001370658.1(BTD):c.40G>A (p.Gly14Ser) rs119103232
NM_001370658.1(BTD):c.451G>A (p.Ala151Thr) rs13073139
NM_001370658.1(BTD):c.820A>G (p.Ile274Val) rs35976361
NM_001370658.1(BTD):c.908A>G (p.His303Arg) rs397507176
NM_001371279.1(REEP1):c.837G>T (p.Ser279=) rs377637314
NM_001371279.1(REEP1):c.844G>A (p.Glu282Lys) rs189652973
NM_001371928.1(AHDC1):c.3254CCT[6] (p.Ser1091del) rs530256606
NM_001374258.1(BRAF):c.1903T>C (p.Phe635Leu) rs794729219
NM_001376058.1(HESX1):c.-110-166T>G rs983243
NM_001379403.1(WDR26):c.1974_1975del (p.Arg658fs) rs1572163072
NM_001382430.1(AKT1):c.138C>A (p.Asp46Glu) rs146875699
NM_001382430.1(AKT1):c.406G>A (p.Val136Met) rs778376616
NM_001382430.1(AKT1):c.570C>T (p.Asp190=) rs780207480
NM_001399.5(EDA):c.206G>T (p.Arg69Leu) rs132630309
NM_001399.5(EDA):c.458G>A (p.Arg153His) rs140642493
NM_001399.5(EDA):c.491A>C (p.Glu164Ala) rs397516663
NM_001430.5(EPAS1):c.1121T>A (p.Phe374Tyr) rs150797491
NM_001605.2(AARS1):c.1685C>T (p.Thr562Ile) rs148355156
NM_001710.6(CFB):c.1598A>G (p.Lys533Arg) rs149101394
NM_001710.6(CFB):c.26T>A (p.Leu9His) rs4151667
NM_001754.4(RUNX1):c.*4188G>C rs761390141
NM_001845.6(COL4A1):c.2086G>A (p.Gly696Ser) rs587780588
NM_001846.4(COL4A2):c.3448C>A (p.Gln1150Lys) rs62621875
NM_001846.4(COL4A2):c.5068G>A (p.Ala1690Thr) rs201105747
NM_001849.4(COL6A2):c.2558G>A (p.Arg853Gln) rs144830948
NM_001875.5(CPS1):c.3643A>G (p.Ile1215Val) rs141373204
NM_001875.5(CPS1):c.4172C>T (p.Thr1391Met) rs1392934477
NM_001875.5(CPS1):c.449G>A (p.Gly150Glu) rs114819130
NM_001927.4(DES):c.897+4_897+5del rs397516699
NM_001943.5(DSG2):c.1174G>A (p.Val392Ile) rs193922639
NM_001943.5(DSG2):c.166G>A (p.Val56Met) rs121913013
NM_001953.4(TYMP):c.929-6_929-3del rs201685922
NM_001999.4(FBN2):c.829G>A (p.Val277Ile) rs146849637
NM_001999.4(FBN2):c.976C>T (p.Pro326Ser) rs28763954
NM_002016.1(FLG):c.1501C>T (p.Arg501Ter) rs61816761
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_002016.2(FLG):c.2476C>T rs115746363
NM_002052.5(GATA4):c.1273G>A (p.Asp425Asn) rs56208331
NM_002055.5(GFAP):c.667G>C (p.Glu223Gln) rs56679084
NM_002150.3(HPD):c.1005C>G (p.Ile335Met) rs137852868
NM_002185.5(IL7R):c.197T>C (p.Ile66Thr) rs1494558
NM_002185.5(IL7R):c.412G>A (p.Val138Ile) rs1494555
NM_002283.4(KRT85):c.233G>A (p.Arg78His) rs61630004
NM_002294.3(LAMP2):c.661G>A (p.Gly221Arg) rs145169006
NM_002335.4(LRP5):c.1999G>A (p.Val667Met) rs4988321
NM_002437.5(MPV17):c.268TTG[1] (p.Leu91del) rs267607264
NM_002470.4(MYH3):c.4910C>T (p.Ala1637Val) rs34165480
NM_002471.4(MYH6):c.1763A>C (p.Asp588Ala) rs142992009
NM_002471.4(MYH6):c.3195G>C (p.Gln1065His) rs267606904
NM_002471.4(MYH6):c.4136C>T (p.Thr1379Met) rs145611185
NM_002471.4(MYH6):c.824T>A (p.Ile275Asn) rs201327273
NM_002473.5(MYH9):c.2104C>T (p.Arg702Cys) rs80338826
NM_002473.6(MYH9):c.3340T>C (p.Ser1114Pro) rs200901330
NM_002473.6(MYH9):c.4952T>C (p.Met1651Thr) rs142094977
NM_002474.3(MYH11):c.5676G>C (p.Glu1892Asp) rs113964173
NM_002474.3(MYH11):c.739C>T (p.Arg247Cys) rs150759461
NM_002485.4(NBN):c.-26G>A rs201392451
NM_002485.4(NBN):c.1591A>G (p.Ile531Val) rs587782330
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser) rs104895032
NM_002485.5(NBN):c.1354A>C (p.Thr452Pro) rs141137543
NM_002485.5(NBN):c.283G>A (p.Asp95Asn) rs61753720
NM_002485.5(NBN):c.38-10T>A rs556807466
NM_002485.5(NBN):c.381T>C (p.Ala127=) rs61754795
NM_002485.5(NBN):c.425A>G (p.Asn142Ser) rs769414
NM_002485.5(NBN):c.511A>G (p.Ile171Val) rs61754966
NM_002485.5(NBN):c.628G>T (p.Val210Phe) rs61754796
NM_002485.5(NBN):c.643C>T (p.Arg215Trp) rs34767364
NM_002485.5(NBN):c.788T>C (p.Phe263Ser) rs147626427
NM_002637.4(PHKA1):c.3364G>C (p.Glu1122Gln) rs202007590
NM_002691.4(POLD1):c.1092G>C (p.Leu364=) rs139883454
NM_002691.4(POLD1):c.1138-8A>G rs41544624
NM_002691.4(POLD1):c.1182C>T (p.Thr394=) rs377462923
NM_002691.4(POLD1):c.1383+8C>T rs374719944
NM_002691.4(POLD1):c.1596C>T (p.Ala532=) rs550441767
NM_002691.4(POLD1):c.1620C>T (p.Gly540=) rs140216790
NM_002691.4(POLD1):c.1795G>A (p.Ala599Thr) rs149569984
NM_002691.4(POLD1):c.2007-4G>A rs202035484
NM_002691.4(POLD1):c.2007-5C>T rs199506387
NM_002691.4(POLD1):c.208G>T (p.Val70Phe) rs147911699
NM_002691.4(POLD1):c.2155-6C>T rs112481714
NM_002691.4(POLD1):c.2275G>A (p.Val759Ile) rs145473716
NM_002691.4(POLD1):c.2337G>A (p.Ala779=) rs147108748
NM_002691.4(POLD1):c.2577C>T (p.Gly859=) rs149366027
NM_002691.4(POLD1):c.2967G>A (p.Thr989=) rs3218752
NM_002691.4(POLD1):c.3054G>A (p.Val1018=) rs369613619
NM_002691.4(POLD1):c.3120+6A>G rs1231856737
NM_002691.4(POLD1):c.455C>T (p.Ala152Val) rs41563714
NM_002691.4(POLD1):c.714G>A (p.Thr238=) rs149096523
NM_002691.4(POLD1):c.773C>T (p.Thr258Met) rs76131127
NM_002691.4(POLD1):c.80A>T (p.Asp27Val) rs150066950
NM_002691.4(POLD1):c.883G>A (p.Val295Met) rs199545019
NM_002691.4(POLD1):c.900G>A (p.Pro300=) rs142407935
NM_002693.2(POLG):c.1198G>A (p.Val400Met) rs529639381
NM_002693.2(POLG):c.2246T>C (p.Phe749Ser) rs202037973
NM_002693.2(POLG):c.3242G>A (p.Arg1081Gln) rs140079523
NM_002693.2(POLG):c.3436C>T (p.Arg1146Cys) rs2307440
NM_002693.2(POLG):c.803G>C (p.Gly268Ala) rs61752784
NM_002769.5(PRSS1):c.161A>G (p.Asn54Ser) rs144422014
NM_002769.5(PRSS1):c.200+1G>A rs143909348
NM_002769.5(PRSS1):c.47C>T (p.Ala16Val) rs202003805
NM_002769.5(PRSS1):c.86A>C (p.Asn29Thr) rs111033566
NM_002769.5(PRSS1):c.86A>T (p.Asn29Ile) rs111033566
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu) rs143759519
NM_002863.5(PYGL):c.1900G>C (p.Asp634His) rs35026927
NM_002863.5(PYGL):c.697G>A (p.Gly233Ser) rs749922511
NM_002872.5(RAC2):c.545C>T (p.Thr182Met) rs141308774
NM_002878.3(RAD51D):c.1A>G (p.Met1Val) rs561425038
NM_002878.3(RAD51D):c.556C>T (p.Arg186Ter) rs387906843
NM_002878.3(RAD51D):c.568G>A (p.Ala190Thr) rs80116829
NM_002878.3(RAD51D):c.796C>T (p.Arg266Cys) rs587781813
NM_002878.3(RAD51D):c.904-3C>T rs45478491
NM_002878.3(RAD51D):c.919G>A (p.Glu307Lys) rs115031549
NM_002878.3(RAD51D):c.983C>T (p.Thr328Ile) rs138969595
NM_002892.4(ARID4A):c.3211+1G>A rs62621193
NM_002968.2(SALL1):c.949C>T (p.Pro317Ser) rs864621971
NM_003036.4(SKI):c.1163C>T (p.Ala388Val) rs75280988
NM_003041.4(SLC5A2):c.885+5G>A rs200228142
NM_003042.4(SLC6A1):c.1648G>A (p.Gly550Arg) rs886042046
NM_003060.4(SLC22A5):c.1463G>A (p.Arg488His) rs28383481
NM_003060.4(SLC22A5):c.34G>A (p.Gly12Ser) rs139203363
NM_003060.4(SLC22A5):c.453G>A (p.Val151=) rs386134194
NM_003070.5(SMARCA2):c.4717G>A (p.Asp1573Asn) rs61736899
NM_003119.4(SPG7):c.1457G>A (p.Arg486Gln) rs111475461
NM_003122.4(SPINK1):c.101A>G (p.Asn34Ser) rs17107315
NM_003122.4(SPINK1):c.163C>T (p.Pro55Ser) rs111966833
NM_003122.4(SPINK1):c.200G>A (p.Arg67His) rs35523678
NM_003238.5(TGFB2):c.272G>A (p.Arg91His) rs10482721
NM_003242.6(TGFBR2):c.1657T>A (p.Ser553Thr) rs112215250
NM_003242.6(TGFBR2):c.944C>T (p.Thr315Met) rs34833812
NM_003361.3(UMOD):c.1406C>T (p.Thr469Met) rs143583842
NM_003413.4(ZIC3):c.135CGC[8] (p.Ala55del) rs748325646
NM_003466.4(PAX8):c.1028A>G (p.Asn343Ser) rs374652916
NM_003482.3(KMT2D):c.10192A>G (p.Met3398Val) rs75937132
NM_003482.3(KMT2D):c.10256A>G (p.Asp3419Gly) rs146044282
NM_003482.3(KMT2D):c.12485G>A (p.Arg4162Gln) rs201078160
NM_003482.3(KMT2D):c.15061C>T (p.Arg5021Ter) rs587783695
NM_003482.3(KMT2D):c.2250_2276del (p.746_754RPEEPHLSP[1]) rs587778449
NM_003482.3(KMT2D):c.4163G>T (p.Arg1388Leu) rs202217665
NM_003482.3(KMT2D):c.6811C>T (p.Pro2271Ser) rs199802471
NM_003611.3(OFD1):c.1100G>A (p.Arg367Gln) rs312262864
NM_003665.3(FCN3):c.349del (p.Leu117fs) rs532781899
NM_003738.5(PTCH2):c.1172_1173del (p.Phe390_Ser391insTer) rs56126236
NM_003850.2(SUCLA2):c.920C>T (p.Ala307Val) rs1011464708
NM_003977.4(AIP):c.145G>A (p.Val49Met) rs1063385
NM_003977.4(AIP):c.911G>A (p.Arg304Gln) rs104894190
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.23C>T (p.Thr8Met) rs529500747
NM_004004.6(GJB2):c.35del (p.Gly12fs) rs80338939
NM_004004.6(GJB2):c.493C>T (p.Arg165Trp) rs376898963
NM_004004.6(GJB2):c.499G>A (p.Val167Met) rs111033360
NM_004004.6(GJB2):c.511G>A (p.Ala171Thr) rs201004645
NM_004006.2(DMD):c.10262+1G>A rs145603325
NM_004006.2(DMD):c.2827C>T (p.Arg943Cys) rs199986217
NM_004006.2(DMD):c.4233+2C>T rs147474070
NM_004006.2(DMD):c.5026-2A>G rs1569559849
NM_004006.2(DMD):c.8138A>G (p.Asn2713Ser) rs758633794
NM_004006.2(DMD):c.821A>G (p.Tyr274Cys) rs745868830
NM_004006.3(DMD):c.2261G>T (p.Gly754Val) rs151242451
NM_004006.3(DMD):c.3970C>T (p.Arg1324Cys) rs143184877
NM_004006.3(DMD):c.7183G>A (p.Ala2395Thr) rs72466590
NM_004006.3(DMD):c.7872+1G>A rs1603445278
NM_004092.4(ECHS1):c.518C>T (p.Ala173Val) rs150321966
NM_004168.4(SDHA):c.1523C>T (p.Thr508Ile) rs151266052
NM_004183.4(BEST1):c.1474G>A (p.Val492Ile) rs111326315
NM_004187.5(KDM5C):c.807del (p.Thr270fs) rs1569278313
NM_004211.5(SLC6A5):c.1640T>C (p.Phe547Ser) rs772652517
NM_004252.5(SLC9A3R1):c.328C>G (p.Leu110Val) rs35910969
NM_004260.3(RECQL4):c.1704+9C>T rs35876881
NM_004260.3(RECQL4):c.1954G>A (p.Val652Met) rs61754061
NM_004260.3(RECQL4):c.308C>T (p.Pro103Leu) rs199543866
NM_004260.3(RECQL4):c.3143A>G (p.Lys1048Arg) rs202203322
NM_004321.7(KIF1A):c.2956C>T (p.Pro986Ser) rs143037290
NM_004329.2(BMPR1A):c.1327C>T (p.Arg443Cys) rs35619497
NM_004329.3(BMPR1A):c.1243G>A (p.Glu415Lys) rs140592056
NM_004360.5(CDH1):c.1008+8G>T rs990193541
NM_004360.5(CDH1):c.1018A>G (p.Thr340Ala) rs116093741
NM_004360.5(CDH1):c.1118C>T (p.Pro373Leu) rs587782359
NM_004360.5(CDH1):c.1136C>T (p.Thr379Met) rs587782856
NM_004360.5(CDH1):c.1223C>T (p.Ala408Val) rs138135866
NM_004360.5(CDH1):c.1273G>A (p.Val425Ile) rs570930882
NM_004360.5(CDH1):c.1680G>C (p.Thr560=) rs35741240
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr) rs35187787
NM_004360.5(CDH1):c.214G>A (p.Asp72Asn) rs35606263
NM_004360.5(CDH1):c.2292C>T (p.Asp764=) rs61747636
NM_004360.5(CDH1):c.2329G>A (p.Asp777Asn) rs372989292
NM_004360.5(CDH1):c.2387G>A (p.Arg796Gln) rs587782549
NM_004360.5(CDH1):c.2413G>A (p.Asp805Asn) rs200894246
NM_004360.5(CDH1):c.2439+10C>T rs35236080
NM_004360.5(CDH1):c.2440-6C>G rs139757930
NM_004360.5(CDH1):c.2494G>A (p.Val832Met) rs35572355
NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly) rs121964872
NM_004360.5(CDH1):c.2520C>T (p.Ser840=) rs140328601
NM_004360.5(CDH1):c.2635G>A (p.Gly879Ser) rs200911775
NM_004360.5(CDH1):c.2638G>A (p.Glu880Lys) rs34507583
NM_004360.5(CDH1):c.304G>A (p.Ala102Thr) rs368492235
NM_004360.5(CDH1):c.387+5G>A rs113055163
NM_004360.5(CDH1):c.671G>A (p.Arg224His) rs201511530
NM_004360.5(CDH1):c.808T>G (p.Ser270Ala) rs587776399
NM_004360.5(CDH1):c.88C>A (p.Pro30Thr) rs139866691
NM_004360.5(CDH1):c.892G>A (p.Ala298Thr) rs142822590
NM_004369.3(COL6A3):c.1292C>T (p.Pro431Leu) rs144746928
NM_004369.3(COL6A3):c.7258C>T (p.Arg2420Trp) rs150165484
NM_004369.4(COL6A3):c.4912G>A (p.Ala1638Thr) rs114322958
NM_004380.3(CREBBP):c.2678C>T (p.Ser893Leu) rs142047649
NM_004385.5(VCAN):c.9265+1G>T rs80356553
NM_004387.4(NKX2-5):c.61G>C (p.Glu21Gln) rs104893904
NM_004387.4(NKX2-5):c.73C>T (p.Arg25Cys) rs28936670
NM_004387.4(NKX2-5):c.943G>T (p.Val315Leu) rs201249977
NM_004393.6(DAG1):c.331G>A (p.Asp111Asn) rs117209107
NM_004453.4(ETFDH):c.295C>T (p.Arg99Cys) rs371493232
NM_004519.4(KCNQ3):c.1720C>T (p.Pro574Ser) rs74582884
NM_004544.4(NDUFA10):c.712G>A (p.Glu238Lys) rs35462421
NM_004550.4(NDUFS2):c.968G>A (p.Arg323Gln) rs35086265
NM_004562.3(PRKN):c.458C>G (p.Pro153Arg) rs55654276
NM_004577.4(PSPH):c.650T>C (p.Val217Ala) rs73343752
NM_004577.4(PSPH):c.95A>G (p.Asp32Gly) rs78599516
NM_004615.3(TSPAN7):c.515C>A (p.Pro172His) rs104894951
NM_004628.5(XPC):c.1001C>A (p.Pro334His) rs74737358
NM_004643.3(PABPN1):c.3GGC[10] (p.Ala9_Ala11dup) rs193922941
NM_004646.3(NPHS1):c.1802G>C (p.Gly601Ala) rs114615449
NM_004646.3(NPHS1):c.2126T>G (p.Val709Gly) rs386833902
NM_004646.3(NPHS1):c.515_517del (p.Thr172del) rs386833947
NM_004655.4(AXIN2):c.1059+8C>T rs367595502
NM_004655.4(AXIN2):c.2083G>T (p.Ala695Ser) rs140510381
NM_004655.4(AXIN2):c.733C>T (p.Pro245Ser) rs62640028
NM_004656.4(BAP1):c.1203T>G (p.Tyr401Ter) rs200156887
NM_004656.4(BAP1):c.121G>A (p.Gly41Ser) rs372586694
NM_004656.4(BAP1):c.1962A>C (p.Val654=) rs148624125
NM_004700.4(KCNQ4):c.648C>T (p.Arg216=) rs80358269
NM_004738.5(VAPB):c.510G>A (p.Met170Ile) rs143144050
NM_004807.3(HS6ST1):c.1144C>T (p.Arg382Trp) rs199538589
NM_004895.4(NLRP3):c.598G>A (p.Val200Met) rs121908147
NM_004937.3(CTNS):c.198_218del (p.Ile67_Pro73del) rs113994204
NM_004960.4(FUS):c.*41G>A rs80301724
NM_004974.4(KCNA2):c.1118C>T (p.Thr373Ile) rs1553181282
NM_004999.4(MYO6):c.647A>T (p.Glu216Val) rs121912559
NM_005033.3(EXOSC9):c.41T>C (p.Leu14Pro) rs139632595
NM_005045.4(RELN):c.3651C>G (p.Ile1217Met) rs56342240
NM_005050.4(ABCD4):c.1411C>T (p.Arg471Trp) rs45568335
NM_005052.3(RAC3):c.176C>G (p.Ala59Gly) rs1379395211
NM_005094.4(SLC27A4):c.1799_1800del (p.Glu600fs) rs758657421
NM_005210.4(CRYGB):c.10-38del rs3214759
NM_005228.5(EGFR):c.3467A>C (p.His1156Pro) rs149174093
NM_005257.5(GATA6):c.551G>A (p.Ser184Asn) rs387906816
NM_005259.3(MSTN):c.458A>G (p.Lys153Arg) rs1805086
NM_005263.5(GFI1):c.-14A>C rs200972824
NM_005263.5(GFI1):c.1250C>T (p.Thr417Met) rs777241871
NM_005357.4(LIPE):c.3203_3221del (p.Val1068fs) rs587777699
NM_005359.6(SMAD4):c.1486C>T (p.Arg496Cys) rs397518413
NM_005359.6(SMAD4):c.1573A>G (p.Ile525Val) rs149755320
NM_005431.2(XRCC2):c.283A>G (p.Ile95Val) rs140214637
NM_005431.2(XRCC2):c.378_381del (p.Leu126fs) rs763401560
NM_005431.2(XRCC2):c.643C>T (p.Arg215Ter) rs143153871
NM_005448.2(BMP15):c.538G>A (p.Ala180Thr) rs104894767
NM_005477.3(HCN4):c.2804C>T (p.Ser935Phe) rs775803239
NM_005502.4(ABCA1):c.688C>T (p.Arg230Cys) rs9282541
NM_005529.7(HSPG2):c.10498G>A (p.Val3500Met) rs143543800
NM_005529.7(HSPG2):c.3056C>T (p.Pro1019Leu) rs62642528
NM_005529.7(HSPG2):c.4916C>T (p.Thr1639Met) rs142433309
NM_005555.4(KRT6B):c.1495G>A (p.Gly499Ser) rs61746355
NM_005591.4(MRE11):c.1960_1979dup (p.Lys661fs) rs587781442
NM_005603.6(ATP8B1):c.1982T>C (p.Ile661Thr) rs121909100
NM_005609.4(PYGM):c.2009C>T (p.Ala670Val) rs113806080
NM_005691.3(ABCC9):c.3409G>A (p.Val1137Ile) rs147895473
NM_005710.2(PQBP1):c.334_354del (p.Gly113_Arg119del) rs606231198
NM_005732.4(RAD50):c.3036+5G>A rs181016343
NM_005861.4(STUB1):c.433A>C (p.Lys145Gln) rs146251364
NM_005912.3(MC4R):c.606C>A (p.Phe202Leu) rs138281308
NM_006005.3(WFS1):c.2209G>A (p.Glu737Lys) rs147834269
NM_006206.6(PDGFRA):c.451C>T (p.Arg151Cys) rs1449637193
NM_006231.3(POLE):c.-6G>A rs534524789
NM_006231.3(POLE):c.1021G>T (p.Ala341Ser) rs137860861
NM_006231.3(POLE):c.2865-3C>T rs1203095918
NM_006231.3(POLE):c.3090C>T (p.Phe1030=) rs766306895
NM_006231.3(POLE):c.3862G>A (p.Ala1288Thr) rs200398117
NM_006231.3(POLE):c.4057A>G (p.Ser1353Gly) rs141619382
NM_006231.3(POLE):c.4259C>T (p.Ala1420Val) rs41561818
NM_006231.3(POLE):c.4645C>G (p.Pro1549Ala) rs147500308
NM_006231.3(POLE):c.51C>G (p.Gly17=) rs780436496
NM_006231.3(POLE):c.561C>T (p.Tyr187=) rs143938822
NM_006231.3(POLE):c.5678+3G>A rs1060500826
NM_006231.3(POLE):c.5679-3C>T rs1555221512
NM_006231.3(POLE):c.5900C>T (p.Ala1967Val) rs201273415
NM_006231.3(POLE):c.6531+6G>T rs774747998
NM_006231.3(POLE):c.776G>A (p.Arg259His) rs61732929
NM_006231.4(POLE):c.1288G>A (p.Ala430Thr) rs140566004
NM_006231.4(POLE):c.2090C>G (p.Pro697Arg) rs36120395
NM_006231.4(POLE):c.2683G>A (p.Ala895Thr) rs201115064
NM_006231.4(POLE):c.3046G>A (p.Val1016Met) rs147692158
NM_006231.4(POLE):c.4523G>A (p.Arg1508His) rs142508245
NM_006231.4(POLE):c.6331-8C>T rs769766403
NM_006231.4(POLE):c.6334C>T (p.Leu2112=) rs373443211
NM_006231.4(POLE):c.861T>A (p.Asp287Glu) rs139075637
NM_006267.5(RANBP2):c.1966A>G (p.Ile656Val) rs121434504
NM_006269.2(RP1):c.1186C>T (p.Arg396Ter) rs201493928
NM_006280.3(SSR4):c.358_359del (p.Arg120fs) rs794729223
NM_006329.3(FBLN5):c.1051C>T (p.Arg351Trp) rs28939073
NM_006348.5(COG5):c.1826T>C (p.Ile609Thr) rs142433421
NM_006397.3(RNASEH2A):c.746C>T (p.Ala249Val) rs758719669
NM_006415.4(SPTLC1):c.1160G>C (p.Gly387Ala) rs119482084
NM_006432.4(NPC2):c.441+1G>A rs140130028
NM_006432.4(NPC2):c.88G>A (p.Val30Met) rs151220873
NM_006493.4(CLN5):c.-146T>C rs201615354
NM_006493.4(CLN5):c.-87C>T rs200353554
NM_006493.4(CLN5):c.187C>T (p.Arg63Cys) rs786205211
NM_006493.4(CLN5):c.188G>C (p.Arg63Pro) rs104894386
NM_006493.4(CLN5):c.688G>A (p.Asp230Asn) rs28940280
NM_006502.2(POLH):c.626G>T (p.Gly209Val) rs2307456
NM_006514.3(SCN10A):c.3674T>C (p.Ile1225Thr) rs139638446
NM_006514.3(SCN10A):c.3803G>A (p.Arg1268Gln) rs138832868
NM_006514.3(SCN10A):c.4984G>A (p.Gly1662Ser) rs151090729
NM_006514.3(SCN10A):c.5657C>T (p.Ala1886Val) rs142653846
NM_006563.4(KLF1):c.519_525dup (p.Gly176fs) rs483352838
NM_006567.5(FARS2):c.737C>T (p.Thr246Met) rs116567033
NM_006579.3(EBP):c.511C>T (p.Arg171Cys) rs141925556
NM_006765.4(TUSC3):c.193A>G (p.Ile65Val) rs11545035
NM_006920.6(SCN1A):c.3672+5G>A rs1060502189
NM_006920.6(SCN1A):c.4395C>A (p.Asn1465Lys) rs1573984110
NM_006920.6(SCN1A):c.5228G>A (p.Gly1743Glu) rs796053036
NM_006920.6(SCN1A):c.830G>A (p.Cys277Tyr) rs1574264920
NM_006939.4(SOS2):c.572C>G (p.Pro191Arg) rs72681869
NM_006940.6(SOX5):c.1681A>C (p.Asn561His) rs1591908568
NM_006946.4(SPTBN2):c.1438C>T rs397514749
NM_006982.3(ALX1):c.191G>T (p.Arg64Leu) rs115596276
NM_007055.4(POLR3A):c.1114G>A (p.Asp372Asn) rs267608673
NM_007055.4(POLR3A):c.1909+22G>A rs191875469
NM_007059.4(KPTN):c.428C>T (p.Pro143Leu) rs372955218
NM_007078.3(LDB3):c.1049C>T (p.Thr350Ile) rs200796750
NM_007078.3(LDB3):c.1535A>C (p.Gln512Pro) rs138951890
NM_007103.4(NDUFV1):c.766C>T (p.Arg256Cys) rs755312472
NM_007194.4(CHEK2):c.*7T>C rs121908710
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708
NM_007194.4(CHEK2):c.1188del (p.Val397fs) rs753159426
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter) rs371418985
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740
NM_007194.4(CHEK2):c.1489G>A (p.Asp497Asn) rs143965148
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu) rs17883862
NM_007194.4(CHEK2):c.320-5T>A rs121908700
NM_007194.4(CHEK2):c.3G>A (p.Met1Ile) rs786203977
NM_007194.4(CHEK2):c.444+1G>A rs121908698
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys) rs77130927
NM_007194.4(CHEK2):c.792+2T>C rs545982789
NM_007214.5(SEC63):c.1697AAG[2] (p.Glu568del) rs752018806
NM_007254.4(PNKP):c.58C>T (p.Pro20Ser) rs3739168
NM_007294.3(BRCA1):c.4096+1G>A rs80358178
NM_007294.3(BRCA1):c.5332+15G>C rs80358148
NM_007294.3(BRCA1):c.671-18_671-16del rs398122354
NM_007294.3(BRCA1):c.81-11del rs273902788
NM_007294.4(BRCA1):c.1036C>T (p.Pro346Ser) rs80357015
NM_007294.4(BRCA1):c.1106_1108del (p.Asp369del) rs80358325
NM_007294.4(BRCA1):c.1258G>T (p.Asp420Tyr) rs80357488
NM_007294.4(BRCA1):c.135-5T>C rs587781916
NM_007294.4(BRCA1):c.1392C>T (p.Thr464=) rs533802049
NM_007294.4(BRCA1):c.1401G>A (p.Lys467=) rs786201323
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931
NM_007294.4(BRCA1):c.1486C>T (p.Arg496Cys) rs28897676
NM_007294.4(BRCA1):c.1487G>A (p.Arg496His) rs28897677
NM_007294.4(BRCA1):c.1511G>A (p.Arg504His) rs56272539
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His) rs56012641
NM_007294.4(BRCA1):c.1797T>C (p.Asn599=) rs756211343
NM_007294.4(BRCA1):c.1843TCT[1] (p.Ser616del) rs80358329
NM_007294.4(BRCA1):c.1865C>T (p.Ala622Val) rs56039126
NM_007294.4(BRCA1):c.192T>G (p.Cys64Trp) rs587781632
NM_007294.4(BRCA1):c.2002C>T (p.Leu668Phe) rs80357250
NM_007294.4(BRCA1):c.2006T>C (p.Met669Thr) rs80356895
NM_007294.4(BRCA1):c.2083G>T (p.Asp695Tyr) rs28897681
NM_007294.4(BRCA1):c.2155A>G (p.Lys719Glu) rs80357147
NM_007294.4(BRCA1):c.2167A>G (p.Asn723Asp) rs4986845
NM_007294.4(BRCA1):c.2286A>T (p.Arg762Ser) rs273898682
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala) rs80357467
NM_007294.4(BRCA1):c.2352G>A (p.Ser784=) rs372017932
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709
NM_007294.4(BRCA1):c.2733A>G (p.Gly911=) rs1800740
NM_007294.4(BRCA1):c.2798G>C (p.Gly933Ala) rs80356941
NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile) rs1800704
NM_007294.4(BRCA1):c.3082C>T (p.Arg1028Cys) rs80357049
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852
NM_007294.4(BRCA1):c.314A>G (p.Tyr105Cys) rs28897673
NM_007294.4(BRCA1):c.3302G>A (p.Ser1101Asn) rs41293447
NM_007294.4(BRCA1):c.3432G>A (p.Gln1144=) rs80356922
NM_007294.4(BRCA1):c.3448C>T (p.Pro1150Ser) rs80357272
NM_007294.4(BRCA1):c.3600G>T (p.Gln1200His) rs56214134
NM_007294.4(BRCA1):c.3657G>C (p.Glu1219Asp) rs80356876
NM_007294.4(BRCA1):c.3691T>C (p.Phe1231Leu) rs41293451
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys) rs28897687
NM_007294.4(BRCA1):c.3739G>A (p.Val1247Ile) rs80357191
NM_007294.4(BRCA1):c.3748G>A (p.Glu1250Lys) rs28897686
NM_007294.4(BRCA1):c.3783A>G (p.Leu1261=) rs80356831
NM_007294.4(BRCA1):c.3823A>G (p.Ile1275Val) rs80357280
NM_007294.4(BRCA1):c.3929C>A (p.Thr1310Lys) rs80357257
NM_007294.4(BRCA1):c.398G>A (p.Arg133His) rs80357357
NM_007294.4(BRCA1):c.3G>A (p.Met1Ile) rs80357475
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689
NM_007294.4(BRCA1):c.4132G>A (p.Val1378Ile) rs28897690
NM_007294.4(BRCA1):c.4166G>A (p.Ser1389Asn) rs78951648
NM_007294.4(BRCA1):c.4183C>T (p.Gln1395Ter) rs80357260
NM_007294.4(BRCA1):c.4261C>T (p.His1421Tyr) rs80357013
NM_007294.4(BRCA1):c.4342A>G (p.Ser1448Gly) rs80357486
NM_007294.4(BRCA1):c.4358-10C>T rs80358111
NM_007294.4(BRCA1):c.4484+14A>G rs80358022
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile) rs1800744
NM_007294.4(BRCA1):c.4682C>T (p.Thr1561Ile) rs56158747
NM_007294.4(BRCA1):c.4729T>C (p.Ser1577Pro) rs80356909
NM_007294.4(BRCA1):c.4766G>A (p.Arg1589His) rs80357341
NM_007294.4(BRCA1):c.4816A>G (p.Lys1606Glu) rs80356943
NM_007294.4(BRCA1):c.4882A>G (p.Met1628Val) rs80357465
NM_007294.4(BRCA1):c.4883T>C (p.Met1628Thr) rs4986854
NM_007294.4(BRCA1):c.4910C>T (p.Pro1637Leu) rs80357048
NM_007294.4(BRCA1):c.4935G>C (p.Arg1645Ser) rs80357373
NM_007294.4(BRCA1):c.4955T>C (p.Met1652Thr) rs80356968
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967
NM_007294.4(BRCA1):c.4963T>C (p.Ser1655Pro) rs1057518639
NM_007294.4(BRCA1):c.4964C>T (p.Ser1655Phe) rs80357390
NM_007294.4(BRCA1):c.5014CAC[1] (p.His1673del) rs80358343
NM_007294.4(BRCA1):c.5059GTT[1] (p.Val1688del) rs80358344
NM_007294.4(BRCA1):c.5074+2T>C rs80358089
NM_007294.4(BRCA1):c.5074+6C>G rs80358032
NM_007294.4(BRCA1):c.5095C>A (p.Arg1699=) rs55770810
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459
NM_007294.4(BRCA1):c.509G>A (p.Arg170Gln) rs80357264
NM_007294.4(BRCA1):c.5117G>C (p.Gly1706Ala) rs80356860
NM_007294.4(BRCA1):c.5154G>T (p.Trp1718Cys) rs80357239
NM_007294.4(BRCA1):c.5158A>G (p.Thr1720Ala) rs56195342
NM_007294.4(BRCA1):c.5165C>T (p.Ser1722Phe) rs80357104
NM_007294.4(BRCA1):c.5211A>G (p.Arg1737=) rs1555576963
NM_007294.4(BRCA1):c.5252G>A (p.Arg1751Gln) rs80357442
NM_007294.4(BRCA1):c.5333-8C>T rs80358084
NM_007294.4(BRCA1):c.5348T>C (p.Met1783Thr) rs55808233
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys) rs56187033
NM_007294.4(BRCA1):c.5406+33A>T rs80358092
NM_007294.4(BRCA1):c.5411T>A (p.Val1804Asp) rs80356920
NM_007294.4(BRCA1):c.5509T>C (p.Trp1837Arg) rs80356959
NM_007294.4(BRCA1):c.5531T>G (p.Leu1844Arg) rs80357323
NM_007294.4(BRCA1):c.5573T>C (p.Ile1858Thr) rs755427809
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530
NM_007294.4(BRCA1):c.591C>T (p.Cys197=) rs1799965
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val) rs28897675
NM_007294.4(BRCA1):c.755G>A (p.Arg252His) rs80357138
NM_007294.4(BRCA1):c.798_799del (p.Ser267fs) rs80357724
NM_007294.4(BRCA1):c.81-14C>T rs80358006
NM_007294.4(BRCA1):c.811G>A (p.Val271Met) rs80357244
NM_007294.4(BRCA1):c.823G>A (p.Gly275Ser) rs8176153
NM_007294.4(BRCA1):c.824G>A (p.Gly275Asp) rs397509327
NM_007294.4(BRCA1):c.981A>G (p.Thr327=) rs1800063
NM_007294.4(BRCA1):c.995G>A (p.Arg332Gln) rs80357464
NM_007315.3(STAT1):c.796G>A (p.Val266Ile) rs41473544
NM_012082.4(ZFPM2):c.1632G>A (p.Met544Ile) rs187043152
NM_012193.4(FZD4):c.205C>T (p.His69Tyr) rs80358282
NM_012213.3(MLYCD):c.206C>T (p.Ala69Val) rs200579941
NM_012222.2(MUTYH):c.1576C>A (p.Leu526Met) rs3219496
NM_012452.2(TNFRSF13B):c.204dup (p.Leu69fs) rs72553875
NM_012479.4(YWHAG):c.398A>C (p.Tyr133Ser) rs1554616627
NM_013339.4(ALG6):c.391T>C (p.Tyr131His) rs35383149
NM_013432.5(TONSL):c.1480G>A (p.Glu494Lys) rs775551492
NM_013432.5(TONSL):c.2800C>T (p.Arg934Trp) rs755575416
NM_014000.3(VCL):c.2862_2864del (p.Leu955del) rs397517237
NM_014014.5(SNRNP200):c.2041C>T (p.Arg681Cys) rs959069360
NM_014014.5(SNRNP200):c.4165G>A (p.Val1389Ile) rs143898031
NM_014141.6(CNTNAP2):c.1083G>A (p.Val361=) rs139180845
NM_014208.3(DSPP):c.202A>T (p.Arg68Trp) rs36094464
NM_014236.4(GNPAT):c.1556A>G (p.Asp519Gly) rs11558492
NM_014363.6(SACS):c.4466A>G (p.Asn1489Ser) rs147099630
NM_014425.5(INVS):c.1948G>C (p.Ala650Pro) rs147452898
NM_014425.5(INVS):c.913G>A (p.Val305Ile) rs116438342
NM_014491.4(FOXP2):c.483ACAACAGCAGCA[3] (p.Gln188_Gln191dup) rs761316361
NM_014795.4(ZEB2):c.10C>G (p.Pro4Ala) rs146394306
NM_014795.4(ZEB2):c.807+3G>C rs144925893
NM_014874.3(MFN2):c.1403G>A (p.Arg468His) rs138382758
NM_014874.4(MFN2):c.2258dup (p.Gln754fs) rs773371488
NM_014946.3(SPAST):c.131C>T (p.Ser44Leu) rs121908515
NM_014946.3(SPAST):c.1625A>G (p.Asp542Gly) rs142053576
NM_014946.3(SPAST):c.1841C>T (p.Thr614Ile) rs1573186691
NM_014946.4(SPAST):c.1496G>A rs878854991
NM_015046.7(SETX):c.4225A>T (p.Asn1409Tyr) rs373375060
NM_015102.5(NPHP4):c.2542C>T (p.Arg848Trp) rs17472401
NM_015102.5(NPHP4):c.2882G>A (p.Arg961His) rs183885357
NM_015120.4(ALMS1):c.1054C>T (p.Arg352Ter) rs1275113273
NM_015166.4(MLC1):c.1052_1053insCGGGGAGGTGAGTGGCCTGTGGGGTGGGGGTGC (p.Ala355_Arg356insSerGlyLeuTrpGlyGlyGlyAlaGlyGluVal) rs745656804
NM_015375.3(DSTYK):c.86G>A (p.Arg29Gln) rs200780796
NM_015443.4(KANSL1):c.2710GAG[1] (p.Glu905del) rs551968687
NM_015506.2(MMACHC):c.271dupA rs398124292
NM_015506.3(MMACHC):c.565C>A (p.Arg189Ser) rs200895671
NM_015560.2(OPA1):c.1146A>G (p.Ile382Met) rs143319805
NM_015634.4(KIFBP):c.518T>C (p.Met173Thr) rs62625033
NM_015909.4(NBAS):c.680A>C (p.His227Pro) rs748880753
NM_015937.6(PIGT):c.494-2A>G rs200790673
NM_015937.6(PIGT):c.514C>T (p.Arg172Cys) rs778531326
NM_016239.4(MYO15A):c.3026C>A (p.Pro1009His) rs117612144
NM_016239.4(MYO15A):c.9478C>T (p.Leu3160Phe) rs140029076
NM_016247.4(IMPG2):c.3439C>T (p.Pro1147Ser) rs111784356
NM_016327.3(UPB1):c.977G>A (p.Arg326Gln) rs118163237
NM_016418.5(NF2):c.886-15C>T rs200837904
NM_016579.4(CD320):c.256GAG[2] (p.Glu88del) rs150384171
NM_017534.6(MYH2):c.2414T>C (p.Val805Ala) rs200662973
NM_017534.6(MYH2):c.2908G>A (p.Val970Ile) rs143872329
NM_017534.6(MYH2):c.3181C>G (p.Leu1061Val) rs142586585
NM_017617.5(NOTCH1):c.1945C>A (p.Pro649Thr) rs780710009
NM_017617.5(NOTCH1):c.2080G>A (p.Glu694Lys) rs79782048
NM_017617.5(NOTCH1):c.3767C>T (p.Pro1256Leu) rs80340744
NM_017617.5(NOTCH1):c.4028C>T (p.Ala1343Val) rs183156491
NM_017739.3(POMGNT1):c.1666G>A (p.Asp556Asn) rs74374973
NM_017780.4(CHD7):c.2053_2058dup (p.Ala685_Lys686dup) rs377139749
NM_017780.4(CHD7):c.7579A>C (p.Met2527Leu) rs192129249
NM_017780.4(CHD7):c.856A>G (p.Arg286Gly) rs61995713
NM_017825.3(ADPRS):c.316C>T (p.Gln106Ter) rs368433666
NM_017849.3(TMEM127):c.410-2A>C rs121908826
NM_017882.3(CLN6):c.34G>A (p.Ala12Thr) rs112239768
NM_017882.3(CLN6):c.829_832del (p.Val277fs) rs1595816474
NM_017890.4(VPS13B):c.11270G>A (p.Arg3757Gln) rs149318176
NM_017890.4(VPS13B):c.11825_11827dup (p.Asp3942dup) rs386834068
NM_017890.4(VPS13B):c.3866C>G (p.Thr1289Ser) rs145569846
NM_017890.4(VPS13B):c.7441G>A (p.Val2481Ile) rs201963516
NM_017890.4(VPS13B):c.8978A>G (p.Asn2993Ser) rs28940272
NM_017890.4(VPS13B):c.9406-1G>T rs386834119
NM_017909.3(RMND1):c.713A>G rs144972972
NM_018117.12(WDR11):c.3450T>G (p.Phe1150Leu) rs139007744
NM_018328.4(MBD5):c.236G>A (p.Gly79Glu) rs34995577
NM_018418.4(SPATA7):c.20_23del (p.Val7Glufs) rs527236050
NM_018684.4(ZC4H2):c.199C>T (p.Arg67Ter) rs1131691616
NM_018848.3(MKKS):c.1015A>G (p.Ile339Val) rs137853909
NM_018848.3(MKKS):c.1553G>A (p.Arg518His) rs149051148
NM_018941.3(CLN8):c.200C>T (p.Ala67Val) rs373957283
NM_020208.4(SLC6A20):c.596C>T (p.Thr199Met) rs17279437
NM_020320.5(RARS2):c.1026G>A (p.Met342Ile) rs34647222
NM_020361.5(CPA6):c.809C>T (p.Ala270Val) rs114402678
NM_020366.3(RPGRIP1):c.2941C>T (p.Arg981Ter) rs780667159
NM_020442.6(VARS2):c.1168G>A rs202201763
NM_020632.3(ATP6V0A4):c.1739T>C (p.Met580Thr) rs3807153
NM_020751.3(COG6):c.358A>G (p.Ser120Gly) rs139313781
NM_020800.3(IFT80):c.869A>G (p.Asn290Ser) rs138081429
NM_020822.3(KCNT1):c.1225C>T (p.Pro409Ser) rs1588344733
NM_020937.4(FANCM):c.4465G>A (p.Gly1489Arg) rs183784665
NM_020937.4(FANCM):c.5101C>T (p.Gln1701Ter) rs147021911
NM_020975.6(RET):c.1118C>T (p.Ala373Val) rs546866208
NM_020975.6(RET):c.1942G>A (p.Val648Ile) rs77711105
NM_020975.6(RET):c.1946C>T (p.Ser649Leu) rs148935214
NM_020975.6(RET):c.2304G>T (p.Glu768Asp) rs78014899
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903
NM_020975.6(RET):c.2410G>A (p.Val804Met) rs79658334
NM_020975.6(RET):c.262A>G (p.Ile88Val) rs141679950
NM_020975.6(RET):c.3188-9C>T rs551159582
NM_020975.6(RET):c.539G>A (p.Arg180Gln) rs370736139
NM_020975.6(RET):c.785T>C (p.Val262Ala) rs139790943
NM_020989.4(CRYGC):c.502C>T (p.Arg168Trp) rs28931604
NM_021175.4(HAMP):c.212G>A (p.Gly71Asp) rs104894696
NM_021267.5(CERS1):c.763C>T (p.Arg255Cys) rs1375601977
NM_021625.4(TRPV4):c.2518G>A (p.Glu840Lys) rs55728855
NM_021939.3(FKBP10):c.917+53G>T rs141387386
NM_022124.6(CDH23):c.9373T>C (p.Phe3125Leu) rs45583140
NM_022173.4(TIA1):c.953A>G (p.Gln318Arg) rs115611153
NM_022369.4(STRA6):c.1223G>A (p.Arg408Gln) rs150814749
NM_022436.3(ABCG5):c.1810C>G (p.Gln604Glu) rs6720173
NM_022436.3(ABCG5):c.593G>A (p.Arg198Gln) rs141828689
NM_022437.3(ABCG8):c.55G>C (p.Asp19His) rs11887534
NM_022454.4(SOX17):c.775T>A (p.Tyr259Asn) rs267607083
NM_022455.4(NSD1):c.4817G>A (p.Cys1606Tyr) rs587784127
NM_022455.4(NSD1):c.4892A>G (p.Lys1631Arg) rs201857437
NM_022464.5(SIL1):c.274C>T (p.Arg92Trp) rs149242794
NM_022552.5(DNMT3A):c.89A>C (p.Glu30Ala) rs143730975
NM_023073.3(CPLANE1):c.1819del (p.Tyr607fs) rs777686211
NM_024301.5(FKRP):c.427C>A (p.Arg143Ser) rs148206382
NM_024312.5(GNPTAB):c.1042A>C (p.Ile348Leu) rs7958709
NM_024411.5(PDYN):c.414G>T (p.Arg138Ser) rs267606941
NM_024422.6(DSC2):c.2365GGA[1] (p.Gly790del) rs377272752
NM_024529.5(CDC73):c.1450C>T (p.Arg484Cys) rs1225502334
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679
NM_024577.3(SH3TC2):c.3686A>T (p.Asp1229Val) rs146920285
NM_024589.2(ROGDI):c.522C>T (p.Ser174=) rs150687774
NM_024589.2(ROGDI):c.713G>A (p.Arg238His) rs138409264
NM_024649.5(BBS1):c.700G>A (p.Glu234Lys) rs35520756
NM_024675.3(PALB2):c.1001A>G (p.Tyr334Cys) rs200620434
NM_024675.3(PALB2):c.1194G>A (p.Val398=) rs61755173
NM_024675.3(PALB2):c.1470C>T (p.Pro490=) rs45612837
NM_024675.3(PALB2):c.1923A>G (p.Lys641=) rs775283927
NM_024675.3(PALB2):c.232G>A (p.Val78Ile) rs515726085
NM_024675.3(PALB2):c.2566C>T (p.Gln856Ter) rs770996884
NM_024675.3(PALB2):c.2590C>T (p.Pro864Ser) rs45568339
NM_024675.3(PALB2):c.2794G>A (p.Val932Met) rs45624036
NM_024675.3(PALB2):c.298C>T (p.Leu100Phe) rs61756147
NM_024675.3(PALB2):c.2993G>A (p.Gly998Glu) rs45551636
NM_024675.3(PALB2):c.2996+9del rs769414858
NM_024675.3(PALB2):c.3130C>T (p.Gln1044Ter) rs766394024
NM_024675.3(PALB2):c.3307G>A (p.Val1103Met) rs201657283
NM_024675.4(PALB2):c.1042C>T (p.Gln348Ter) rs375699023
NM_024675.4(PALB2):c.1379A>G (p.Gln460Arg) rs749494645
NM_024675.4(PALB2):c.1540G>A (p.Gly514Arg) rs756778249
NM_024675.4(PALB2):c.1544A>G (p.Lys515Arg) rs515726072
NM_024675.4(PALB2):c.1861C>A (p.Pro621Thr) rs756116550
NM_024675.4(PALB2):c.1917G>T (p.Glu639Asp) rs1597090787
NM_024675.4(PALB2):c.194C>T (p.Pro65Leu) rs62625272
NM_024675.4(PALB2):c.2135C>T (p.Ala712Val) rs141458731
NM_024675.4(PALB2):c.2218C>T (p.Gln740Ter) rs1555460445
NM_024675.4(PALB2):c.2258G>A (p.Arg753Gln) rs587778586
NM_024675.4(PALB2):c.2379C>T (p.Gly793=) rs377626805
NM_024675.4(PALB2):c.23C>T (p.Pro8Leu) rs150390726
NM_024675.4(PALB2):c.2438T>C (p.Ile813Thr) rs763191051
NM_024675.4(PALB2):c.2506G>A (p.Val836Ile) rs536644825
NM_024675.4(PALB2):c.2587-1G>C rs761214886
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp) rs45478192
NM_024675.4(PALB2):c.2834+4T>C rs982643702
NM_024675.4(PALB2):c.2961A>G (p.Gln987=) rs1555459530
NM_024675.4(PALB2):c.3056T>C (p.Val1019Ala) rs376619846
NM_024675.4(PALB2):c.3257G>A (p.Arg1086Gln) rs146377793
NM_024675.4(PALB2):c.3271C>T (p.Gln1091Ter) rs864622138
NM_024675.4(PALB2):c.3350+5G>A rs587782566
NM_024675.4(PALB2):c.3350G>A (p.Arg1117Lys) rs876659859
NM_024675.4(PALB2):c.3428T>A (p.Leu1143His) rs62625284
NM_024675.4(PALB2):c.656A>G (p.Asp219Gly) rs45594034
NM_024675.4(PALB2):c.93dup (p.Leu32fs) rs864622498
NM_024685.4(BBS10):c.850C>T (p.Gln284Ter) rs758732081
NM_024989.4(PGAP1):c.1753C>G (p.Gln585Glu) rs62185645
NM_024989.4(PGAP1):c.2287G>A (p.Val763Ile) rs143960563
NM_025137.4(SPG11):c.2444+1G>C rs312262743
NM_025137.4(SPG11):c.4434+1G>A rs1567148391
NM_025137.4(SPG11):c.529_533del (p.Ile177fs) rs312262716
NM_025137.4(SPG11):c.6832_6833del (p.Ser2278fs) rs312262784
NM_025137.4(SPG11):c.7256A>G (p.Lys2419Arg) rs76116949
NM_025216.3(WNT10A):c.511C>T (p.Arg171Cys) rs116998555
NM_025216.3(WNT10A):c.682T>A (p.Phe228Ile) rs121908120
NM_030582.4(COL18A1):c.3364_3377= (p.Gly1122_Pro1126=) rs78227997
NM_030582.4(COL18A1):c.4309G>A (p.Asp1437Asn) rs12483377
NM_030621.4(DICER1):c.1907+105C>T rs2275182
NM_030665.4(RAI1):c.3778GAG[1] (p.Glu1261del) rs149716029
NM_030751.6(ZEB1):c.233A>C (p.Asn78Thr) rs80194531
NM_030751.6(ZEB1):c.2519A>C (p.Gln840Pro) rs118020901
NM_030787.4(CFHR5):c.486dup (p.Glu163fs) rs565457964
NM_030973.3(MED25):c.1004C>T (p.Ala335Val) rs145770066
NM_031885.4(BBS2):c.401C>G (p.Pro134Arg) rs376306240
NM_031935.3(HMCN1):c.15614G>A (p.Arg5205His) rs150188026
NM_032043.2(BRIP1):c.2097+7G>A rs4988352
NM_032043.2(BRIP1):c.517C>T (p.Arg173Cys) rs4988345
NM_032043.3(BRIP1):c.1941G>C (p.Trp647Cys) rs786202760
NM_032043.3(BRIP1):c.2078_2079del (p.Cys693fs) rs1603328466
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs) rs771028677
NM_032119.4(ADGRV1):c.16377G>T (p.Gln5459His) rs371947306
NM_032119.4(ADGRV1):c.5830G>A (p.Asp1944Asn) rs41302834
NM_032119.4(ADGRV1):c.6133G>A (p.Gly2045Arg) rs41308846
NM_032119.4(ADGRV1):c.6559A>G (p.Ile2187Val) rs200512504
NM_032271.3(TRAF7):c.1964G>A (p.Arg655Gln) rs1331463984
NM_032444.4(SLX4):c.1372A>G (p.Lys458Glu) rs149126845
NM_032504.1(UNC80):c.1806G>C (p.Gln602His) rs200473652
NM_032578.4(MYPN):c.3335C>T (p.Pro1112Leu) rs71534278
NM_032634.4(PIGO):c.590C>T (p.Pro197Leu) rs150734953
NM_032682.6(FOXP1):c.1240_1241del (p.Leu414fs) rs1064793130
NM_033028.5(BBS4):c.1414A>G (p.Met472Val) rs2277596
NM_033056.4(PCDH15):c.2884C>T (p.Arg962Cys) rs201816080
NM_033084.5(FANCD2):c.1179T>C (p.Thr393=) rs72492998
NM_033084.5(FANCD2):c.1634A>G (p.Asn545Ser) rs145522204
NM_033084.5(FANCD2):c.182C>T (p.Thr61Met) rs35110529
NM_033084.5(FANCD2):c.1868A>C (p.Gln623Pro) rs36070315
NM_033100.4(CDHR1):c.783G>A (p.Pro261=) rs147346345
NM_033118.4(MYLK2):c.430C>G (p.Pro144Ala) rs34396614
NM_033343.4(LHX4):c.250C>T (p.Arg84Cys) rs121912642
NM_033380.3(COL4A5):c.2215C>G (p.Pro739Ala) rs104886164
NM_033380.3(COL4A5):c.2722G>A (p.Gly908Arg) rs281874703
NM_033380.3(COL4A5):c.2858G>T (p.Gly953Val) rs78972735
NM_033409.4(SLC52A3):c.1048T>A (p.Leu350Met) rs76947760
NM_052845.4(MMAB):c.548A>T (p.His183Leu) rs752866643
NM_054021.1(GPR101):c.924G>C (p.Glu308Asp) rs73637412
NM_054035.2(UNC119):c.65G>T (p.Gly22Val) rs199714731
NM_058216.3(RAD51C):c.145+12T>G rs377297129
NM_058216.3(RAD51C):c.146-3C>T rs765143155
NM_058216.3(RAD51C):c.146-8A>G rs201079501
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr) rs61758784
NM_058216.3(RAD51C):c.461A>G (p.Glu154Gly) rs758847241
NM_058216.3(RAD51C):c.656T>C (p.Leu219Ser) rs201529791
NM_058216.3(RAD51C):c.773G>A (p.Arg258His) rs267606997
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser) rs147241704
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala) rs28363317
NM_080647.1(TBX1):c.928G>A (p.Gly310Ser) rs41298838
NM_080680.3(COL11A2):c.1615C>T (p.Arg539Trp) rs145499142
NM_080916.3(DGUOK):c.4G>T (p.Ala2Ser) rs147551003
NM_138694.4(PKHD1):c.1242_1250del (p.Ala415_Ile417del) rs1554217913
NM_138694.4(PKHD1):c.1748G>A (p.Cys583Tyr) rs369292828
NM_138694.4(PKHD1):c.2027C>G (p.Pro676Arg) rs115045643
NM_138694.4(PKHD1):c.4882C>G (p.Pro1628Ala) rs267601070
NM_138694.4(PKHD1):c.5125C>T (p.Leu1709Phe) rs45517932
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val) rs369925690
NM_138694.4(PKHD1):c.8581A>G (p.Ser2861Gly) rs150925674
NM_138694.4(PKHD1):c.9866G>T (p.Ser3289Ile) rs148932323
NM_139025.4(ADAMTS13):c.1368G>T (p.Gln456His) rs36220239
NM_139025.4(ADAMTS13):c.1423C>T (p.Pro475Ser) rs11575933
NM_139025.4(ADAMTS13):c.2708C>T (p.Ser903Leu) rs78977446
NM_139276.2(STAT3):c.1859C>T (p.Thr620Ile) rs1567708034
NM_144588.7(ZFYVE27):c.572G>T (p.Gly191Val) rs35077384
NM_144612.6(LOXHD1):c.4526G>A (p.Gly1509Glu) rs187587197
NM_144687.3(NLRP12):c.910C>T (p.His304Tyr) rs141245482
NM_144773.3(PROKR2):c.518T>G (p.Leu173Arg) rs74315416
NM_144773.3(PROKR2):c.889G>A (p.Val297Ile) rs139399061
NM_144966.5(FREM1):c.1493G>A (p.Arg498Gln) rs184394424
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr) rs41419545
NM_144997.7(FLCN):c.715C>T (p.Arg239Cys) rs78683075
NM_145239.3(PRRT2):c.647C>G (p.Pro216Arg) rs76335820
NM_145239.3(PRRT2):c.649del (p.Arg217fs) rs587778771
NM_152299.4(NCAPH2):c.*261G>A rs8139305
NM_152419.3(HGSNAT):c.1843G>A (p.Ala615Thr) rs112029032
NM_152419.3(HGSNAT):c.710C>A (p.Pro237Gln) rs727503962
NM_152443.3(RDH12):c.677A>G (p.Tyr226Cys) rs28940313
NM_152778.3(MFSD8):c.1066C>A (p.Pro356Thr) rs756204684
NM_152783.5(D2HGDH):c.1276G>A (p.Ala426Thr) rs146578303
NM_153026.3(PRICKLE1):c.824C>T (p.Thr275Met) rs559947948
NM_153240.5(NPHP3):c.154G>A (p.Ala52Thr) rs145643112
NM_153252.5(BRWD3):c.2325+5G>A rs186391561
NM_153681.2(PIGP):c.74T>C (p.Met25Thr) rs768633670
NM_172107.4(KCNQ2):c.1118+1G>A rs397507449
NM_172107.4(KCNQ2):c.1632-1G>T rs118192233
NM_172107.4(KCNQ2):c.1657C>T (p.Arg553Trp) rs759584387
NM_172351.3(CD46):c.1013C>T (p.Ala338Val) rs35366573
NM_173076.3(ABCA12):c.7093G>A (p.Asp2365Asn) rs726070
NM_173170.1(IL36RN):c.115+6T>C rs148755083
NM_173354.5(SIK1):c.1215G>A (p.Met405Ile) rs34987632
NM_174936.4(PCSK9):c.1274A>G (p.Asn425Ser) rs28362261
NM_175875.5(SIX5):c.1655C>T (p.Thr552Met) rs80356464
NM_177438.2(DICER1):c.1692G>A (p.Ala564=) rs143117334
NM_177438.2(DICER1):c.20A>G (p.Gln7Arg) rs117358479
NM_177438.2(DICER1):c.3553G>A (p.Ala1185Thr) rs150514959
NM_177550.4(SLC13A5):c.655G>A (p.Gly219Arg) rs144332569
NM_177550.5(SLC13A5):c.434C>T (p.Thr145Met) rs1202091819
NM_178857.6(RP1L1):c.568C>T (p.Arg190Cys) rs202110498
NM_178857.6(RP1L1):c.5959C>T (p.Gln1987Ter) rs200846354
NM_181523.3(PIK3R1):c.1425+1G>A rs587777709
NM_181776.3(SLC36A2):c.260G>T (p.Gly87Val) rs77010315
NM_181798.1(KCNQ1):c.1175G>A (p.Arg392His) rs199472788
NM_182914.2(SYNE2):c.18632C>T (p.Thr6211Met) rs36215895
NM_182961.4(SYNE1):c.19692+3G>A rs150304757
NM_182961.4(SYNE1):c.25381G>A (p.Glu8461Lys) rs119103248
NM_183050.4(BCKDHB):c.1006G>A (p.Gly336Ser) rs398124560
NM_183050.4(BCKDHB):c.1159C>T (p.Arg387Ter) rs751599203
NM_183357.2(ADCY5):c.1902G>C (p.Glu634Asp) rs61734561
NM_194248.3(OTOF):c.1236del (p.Glu413fs) rs397515581
NM_194248.3(OTOF):c.2381G>A (p.Arg794His) rs80356592
NM_194248.3(OTOF):c.5063C>T (p.Thr1688Met) rs111033393
NM_194456.1(KRIT1):c.*132T>G rs572414111
NM_197947.3(CLEC7A):c.714T>G (p.Tyr238Ter) rs16910526
NM_198056.2(SCN5A):c.1756_1761del (p.Ala586_Leu587del) rs397517953
NM_198056.2(SCN5A):c.3206C>T (p.Thr1069Met) rs199473187
NM_198056.2(SCN5A):c.373G>C (p.Val125Leu) rs199473059
NM_198056.2(SCN5A):c.481G>A (p.Glu161Lys) rs199473062
NM_198056.2(SCN5A):c.4885C>T (p.Arg1629Ter) rs199473284
NM_198056.2(SCN5A):c.5455G>A (p.Asp1819Asn) rs137854619
NM_198056.2(SCN5A):c.80G>A (p.Arg27His) rs199473045
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del) rs377639087
NM_198576.4(AGRN):c.2457G>C (p.Gly819=) rs112039851
NM_198578.4(LRRK2):c.1000G>A (p.Glu334Lys) rs78501232
NM_198578.4(LRRK2):c.2378G>T (p.Arg793Met) rs35173587
NM_198578.4(LRRK2):c.4111A>G (p.Ile1371Val) rs17466213
NM_198578.4(LRRK2):c.4883G>C (p.Arg1628Pro) rs33949390
NM_198578.4(LRRK2):c.5606T>C (p.Met1869Thr) rs35602796
NM_198578.4(LRRK2):c.5822G>A (p.Arg1941His) rs77428810
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser) rs34637584
NM_198578.4(LRRK2):c.632C>T (p.Ala211Val) rs112794616
NM_198578.4(LRRK2):c.6566A>G (p.Tyr2189Cys) rs35658131
NM_198578.4(LRRK2):c.7067C>T (p.Thr2356Ile) rs113511708
NM_198578.4(LRRK2):c.7153G>A (p.Gly2385Arg) rs34778348
NM_198994.3(TGM6):c.1550T>G (p.Leu517Trp) rs387907097
NM_199242.2(UNC13D):c.1228A>C (p.Ile410Leu) rs117221419
NM_199242.2(UNC13D):c.2542A>C (p.Ile848Leu) rs144968313
NM_199242.2(UNC13D):c.2983G>C (p.Ala995Pro) rs138760432
NM_199242.2(UNC13D):c.753+3G>A rs116229331
NM_199242.2(UNC13D):c.847A>G (p.Ile283Val) rs61754871
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr) rs62645748
NM_201253.3(CRB1):c.613_619del (p.Ile205fs) rs62645752
NM_201253.3(CRB1):c.614T>C (p.Ile205Thr) rs62645749
NM_201548.5(CERKL):c.481+2T>G rs753994107
NM_201596.3(CACNB2):c.380C>T (p.Ala127Val) rs200367454
NM_201596.3(CACNB2):c.641G>C (p.Ser214Thr) rs149253719
NM_206933.2(USH2A):c.3902G>T (p.Gly1301Val) rs111033524
NM_206933.3(USH2A):c.2802T>G (p.Cys934Trp) rs201527662
NM_206933.4(USH2A):c.2052A>G (p.Gln684=) rs111033248
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902
NM_206933.4(USH2A):c.2546G>A (p.Cys849Tyr) rs111033481
NM_206933.4(USH2A):c.4758+3A>G rs117798425
NM_206933.4(USH2A):c.5609G>A (p.Arg1870Gln) rs111033409
NM_206933.4(USH2A):c.5624A>G (p.Asn1875Ser) rs141609561
NM_206933.4(USH2A):c.7068T>G (p.Asn2356Lys) rs200038092
NM_206933.4(USH2A):c.8342C>T (p.Thr2781Ile) rs143240767
NM_207346.3(TSEN54):c.277T>C (p.Ser93Pro) rs113994151
NM_207352.4(CYP4V2):c.64C>G (p.Leu22Val) rs1055138
NM_212472.2(PRKAR1A):c.221G>A (p.Arg74His) rs200069356
NM_212472.2(PRKAR1A):c.349-5T>C rs1456043929
UGT1A1*28 rs3064744

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