ClinVar Miner

Variants from Fulgent Genetics with conflicting interpretations

Location: United States — Primary collection method: clinical testing
Minimum review status of the submission from Fulgent Genetics: Collection method of the submission from Fulgent Genetics:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

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

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
3 3752 149 706 254 50 133 1144

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
Fulgent Genetics pathogenic likely pathogenic uncertain significance likely benign benign affects association drug response protective risk factor other
pathogenic 115 456 41 1 0 1 0 12 1 16 9
likely pathogenic 201 3 18 0 0 0 0 0 0 4 2
uncertain significance 46 29 23 215 51 0 1 1 0 4 1
likely benign 0 2 21 3 42 0 0 0 0 0 0
benign 1 0 6 7 5 0 0 0 0 0 1

Submitter to submitter summary #

Total submitters: 164
Download table as spreadsheet
Submitter Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
Counsyl 0 643 0 214 3 0 1 218
Invitae 0 2614 0 110 83 1 8 202
GeneDx 0 1889 0 139 48 0 9 196
Ambry Genetics 0 1045 0 70 72 0 5 147
GeneReviews 0 113 115 21 0 0 8 144
OMIM 0 554 0 71 2 34 25 131
Color 0 406 0 32 84 0 4 120
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 1093 0 76 22 3 4 105
Integrated Genetics/Laboratory Corporation of America 0 552 4 59 29 0 3 95
Illumina Clinical Services Laboratory,Illumina 0 509 0 54 9 0 14 77
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 451 0 50 13 0 1 64
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 203 0 41 8 0 2 51
Biesecker Lab/Human Development Section,National Institutes of Health 0 30 27 8 2 0 1 38
Department of Pathology and Laboratory Medicine,Sinai Health System 0 68 0 32 3 0 2 37
Genetic Services Laboratory, University of Chicago 0 388 0 31 4 0 1 36
PreventionGenetics 0 94 0 23 11 0 1 35
Sharing Clinical Reports Project (SCRP) 0 67 0 20 8 0 1 29
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 57 0 26 1 0 0 27
Michigan Medical Genetics Laboratories,University of Michigan 0 24 0 23 2 0 0 25
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 57 0 21 2 0 1 24
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 58 0 19 3 0 0 22
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 105 0 19 1 0 1 21
Database of Curated Mutations (DoCM) 0 0 0 20 0 0 1 21
Breast Cancer Information Core (BIC) (BRCA2) 0 43 0 8 8 0 3 19
SIB Swiss Institute of Bioinformatics 0 19 0 16 1 0 2 19
Baylor Miraca Genetics Laboratories, 0 85 0 18 0 0 0 18
Athena Diagnostics Inc 0 263 0 12 6 0 0 18
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 58 0 12 5 0 1 18
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 51 0 17 0 0 1 18
Breast Cancer Information Core (BIC) (BRCA1) 0 28 0 1 11 0 4 16
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 53 0 13 2 0 0 15
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 44 0 9 4 0 2 15
CSER_CC_NCGL; University of Washington Medical Center 0 45 0 4 7 0 4 15
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 173 0 15 0 0 0 15
CeGaT Praxis fuer Humangenetik Tuebingen 0 126 0 11 1 0 3 15
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 27 0 11 3 0 0 14
NIHR Bioresource Rare Diseases,University of Cambridge 0 10 0 11 1 0 1 13
University of Washington Department of Laboratory Medicine,University of Washington 0 27 0 5 7 0 1 13
PharmGKB 0 0 0 0 0 12 0 12
GeneKor MSA 0 76 0 12 0 0 0 12
Quest Diagnostics Nichols Institute San Juan Capistrano 0 230 0 6 4 0 1 11
LDLR-LOVD, British Heart Foundation 0 4 0 11 0 0 0 11
Pathway Genomics 0 19 0 10 0 0 1 11
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency 0 13 0 11 0 0 0 11
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 12 0 3 0 0 8 11
UCLA Clinical Genomics Center, UCLA 0 8 0 10 0 0 0 10
Center for Medical Genetics Ghent,University of Ghent 0 8 0 9 0 0 1 10
Stanford Center for Inherited Cardiovascular Disease,Stanford University 0 38 0 9 1 0 0 10
Robarts Research Institute,Western University 0 0 0 10 0 0 0 10
True Health Diagnostics 0 34 0 9 1 0 0 10
Wong Mito Lab, Molecular and Human Genetics,Baylor College of Medicine 0 10 0 3 5 0 2 10
Division of Human Genetics,Children's Hospital of Philadelphia 0 38 0 9 0 0 0 9
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 0 47 0 4 3 0 1 8
Laboratory of Genetics and Molecular Cardiology,University of São Paulo 0 8 0 8 0 0 0 8
Centre de Génétique Moléculaire et Chromosomique, Unité de génétique de l'Obésité et des Dyslipidémies,APHP, GH Hôpitaux Universitaires Pitié-Salpêtrière / Charles-Foix 0 3 0 8 0 0 0 8
Molecular Genetics Laboratory,Centre for Cardiovascular Surgery and Transplantation 0 1 0 8 0 0 0 8
Center for Human Genetics, Inc 0 42 0 6 1 0 0 7
Foulkes Cancer Genetics LDI,Lady Davis Institute for Medical Research 0 11 0 2 3 0 2 7
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 1 3 4 0 0 0 7
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 3 0 0 4 7
Mendelics 0 170 0 1 4 0 1 6
Blueprint Genetics, 0 30 0 4 0 0 2 6
University of Washington Center for Mendelian Genomics,University of Washington 0 2 0 6 0 0 0 6
Bioinformatics Core,Luxembourg Center for Systems Biomedicine 0 0 0 0 0 0 6 6
Gharavi Laboratory,Columbia University 0 29 0 4 0 0 2 6
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 23 0 5 0 0 0 5
Institute of Human Genetics,Klinikum rechts der Isar 0 17 0 5 0 0 0 5
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 1 0 4 0 0 1 5
Vantari Genetics 0 9 0 4 1 0 0 5
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 8 0 5 0 0 0 5
ARUP Institute,ARUP Laboratories 0 20 1 3 0 0 1 5
Fundacion Hipercolesterolemia Familiar 0 5 0 5 0 0 0 5
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto 0 38 0 3 1 0 1 5
ClinGen PAH Variant Curation Expert Panel, 0 18 0 5 0 0 0 5
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 41 0 2 0 0 2 4
HudsonAlpha Institute for Biotechnology 0 30 0 3 1 0 0 4
Foundation for Research in Genetics and Endocrinology,Institute of Human Genetics 0 5 0 4 0 0 0 4
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 0 17 0 3 1 0 0 4
Undiagnosed Diseases Network,NIH 0 10 0 4 0 0 0 4
Equipe Genetique des Anomalies du Developpement,Université de Bourgogne 0 17 0 3 0 0 1 4
Iberoamerican FH Network 0 4 0 4 0 0 0 4
ClinGen RASopathy Variant Curation Expert Panel, 0 13 0 3 1 0 0 4
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne 0 13 0 4 0 0 0 4
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 2 0 2 0 0 1 3
Center for Genetic Medicine Research,Children's National Medical Center 0 0 0 3 0 0 0 3
Lupski Lab, Baylor-Hopkins CMG,Baylor College of Medicine 0 9 0 3 0 0 0 3
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 15 0 3 0 0 0 3
Centre for Genomic and Experimental Medicine,University of Edinburgh 0 0 0 2 0 0 1 3
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease,Montreal Heart Institute 0 22 0 3 0 0 0 3
Cardiovascular Research Group,Instituto Nacional de Saude Doutor Ricardo Jorge 0 6 0 3 0 0 0 3
Human Genetics - Radboudumc,Radboudumc 0 7 0 3 0 0 0 3
Department of Pathology and Molecular Medicine,Queen's University 0 10 0 3 0 0 0 3
3DMed Clinical Laboratory Inc 0 3 0 0 2 0 1 3
Molecular Diagnostics Laboratory,M Health: University of Minnesota 0 7 0 3 0 0 0 3
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 0 4 0 3 0 0 0 3
Courtagen Diagnostics Laboratory,Courtagen Life Sciences 0 27 0 2 0 0 0 2
CFTR2 0 27 0 2 0 0 0 2
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 0 27 0 2 0 0 0 2
Institute for Integrative and Experimental Genomics,University of Luebeck 0 0 0 2 0 0 0 2
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 44 0 2 0 0 0 2
UW Hindbrain Malformation Research Program,University of Washington 0 14 0 2 0 0 0 2
Medical Genetics,University of Parma 0 0 0 1 0 0 1 2
Center for Human Genetics,University of Leuven 0 5 0 2 0 0 0 2
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University 0 1 0 2 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 8 0 1 0 0 1 2
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg 0 8 0 2 0 0 0 2
Department of Medical Genetics,University Hospital of North Norway 0 2 0 2 0 0 0 2
GenePathDx,Causeway Health Care Private Ltd 0 0 0 2 0 0 0 2
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center 0 10 0 0 2 0 0 2
Yale Center for Mendelian Genomics,Yale University 0 2 0 1 0 0 1 2
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 7 0 2 0 0 0 2
Snyder Lab, Genetics Department,Stanford University 0 0 0 2 0 0 0 2
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 11 0 2 0 0 0 2
Elsea Laboratory,Baylor College of Medicine 0 0 0 0 0 0 1 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 2 0 1 0 0 0 1
Cardiovascular Biomedical Research Unit,Royal Brompton & Harefield NHS Foundation Trust 0 31 0 1 0 0 0 1
Systems Biology Platform Zhejiang California International NanoSystems Institute 0 0 0 0 0 1 0 1
GenMed Metabolism Lab 0 1 0 1 0 0 0 1
RettBASE 0 9 0 0 1 0 0 1
Shenzhen Institute of Pediatrics,Shenzhen Children's Hospital 0 0 0 1 0 0 0 1
Institute of Human Genetics,Friedrich-Alexander-Universität Erlangen-Nürnberg 0 3 0 1 0 0 0 1
Institute of Human Genetics,University Medical Center Hamburg-Eppendorf 0 2 0 1 0 0 0 1
Department of Medical Genetics,Oslo University Hospital 0 12 0 1 0 0 0 1
Clinical Genetics Karolinska University Hospital,Karolinska University Hospital 0 0 0 1 0 0 0 1
Clinical Genetics Research Group, University of Calgary 0 0 0 1 0 0 0 1
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 4 0 1 0 0 0 1
Section on Endocrinology and Genetics,National Institutes of Health / The Eunice Kennedy Shriver National Institute of Child Health and Human Development 0 0 0 1 0 0 0 1
Language and Genetics Department,Max Planck Institute for Psycholinguistics 0 0 0 1 0 0 0 1
Neurogenetics of motion laboratory,Montreal Neurological Institute 0 1 0 1 0 0 0 1
Laboratory of Molecular Genetics (Pr. Bezieau's lab),CHU de Nantes 0 8 0 0 0 0 1 1
Molecular Oncology Laboratory,Centre Jean Perrin 0 0 0 0 0 1 0 1
Genome Sciences Centre,British Columbia Cancer Agency 0 3 0 1 0 0 0 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 0 0 1 0 0 0 1
Centre for Genomic Medicine, Manchester,Central Manchester University Hospitals 0 2 0 1 0 0 0 1
Dr. Peter K. Rogan Lab,Western University 0 0 0 1 0 0 0 1
Next Generation Diagnostics,Novartis Institutes for BioMedical Research, Inc. 0 0 0 0 1 0 0 1
Centre de Biologie Pathologie Génétique,Centre Hospitalier Universitaire de Lille 0 0 0 0 0 0 1 1
Hereditary Research Laboratory,Bethlehem University 0 0 0 1 0 0 0 1
Center for Medical Genomics, Faculty of Medicine Ramathibodi Hospital, Mahidol University,Faculty of Medicine Ramathibodi Hospital, Mahidol University 0 3 0 1 0 0 0 1
Institute of Molecular Biology and Genetics,Federal Almazov North-West Medical Research Centre 0 1 0 1 0 0 0 1
Department of Molecular and Medical Genetics,Osaka Medical Center for Cancer and Cardiovascular Diseases 0 0 0 0 0 0 1 1
Shendure Lab,University of Washington 0 0 0 1 0 0 0 1
Neurogenetics Laboratory - MEYER,AOU Meyer 0 1 0 1 0 0 0 1
Groupe Hospitalier Pitie Salpetriere, UF Genomique du Developpement,Assistance Publique Hopitaux de Paris 0 2 0 1 0 0 0 1
Center for Medical Genetics and Molecular Medicine,Haukeland University Hospital 0 0 0 1 0 0 0 1
Unit for Genetic & Epidemiological Research on Neurological Disorders,Instituto de Investigação e Inovação em Saúde 0 1 0 1 0 0 0 1
Endocrine oncology group,Uppsala University 0 0 0 1 0 0 0 1
Kopetz Lab,MD Anderson Cancer Center 0 0 0 0 0 1 0 1
Department of Laboratory Medicine and Genetics,Trillium Health Partners Credit Valley Hospital 0 2 0 1 0 0 0 1
Laboratorium voor Moleculaire Diagnostiek Experimentele Vasculaire Geneeskunde,Academisch Medisch Centrum 0 11 0 1 0 0 0 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 0 0 0 0 0 1 1
AlTemaimi Lab, Faculty of Medicine,Kuwait University 0 0 0 0 0 0 1 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 24 0 0 0 0 1 1
Laboratory of Molecular Neuropathology,The University of Texas Health Science Center at Houston 0 0 0 0 0 0 1 1
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 3 0 0 0 0 1 1
SingHealth Duke-NUS Institute of Precision Medicine 0 3 0 0 0 0 1 1
Center for Precision Medicine,Vanderbilt University Medical Center 0 2 0 0 0 0 1 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 1 0 0 0 1
Broad Institute Rare Disease Group,Broad Institute 0 12 0 1 0 0 0 1
Cancer Variant Interpretation Group UK,Institute of Cancer Research, London 0 0 0 0 1 0 0 1
Clinical Genomics Lab,St. Jude Children's Research Hospital 0 10 0 1 0 0 0 1
ClinGen PTEN Variant Curation Expert Panel 0 2 0 0 1 0 0 1
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 1 0 0 1 0 0 1
The Cell Therapy Center,The University of Jordan 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 1144
Download table as spreadsheet
HGVS dbSNP
NC_012920.1:m.11778G>A rs199476112
NM_000016.5(ACADM):c.157C>T (p.Arg53Cys) rs398123072
NM_000016.5(ACADM):c.583G>A (p.Gly195Arg) rs121434278
NM_000016.5(ACADM):c.600-18G>A rs370523609
NM_000016.5(ACADM):c.797A>G (p.Asp266Gly) rs201375579
NM_000016.5(ACADM):c.881G>C (p.Arg294Thr) rs779759347
NM_000017.2(ACADS):c.988C>T (p.Arg330Cys) rs140853839
NM_000017.3(ACADS):c.1031A>G (p.Glu344Gly) rs387906950
NM_000017.3(ACADS):c.529T>C (p.Trp177Arg) rs57443665
NM_000018.3(ACADVL):c.1679-6G>A rs113994171
NM_000018.3(ACADVL):c.848T>C (p.Val283Ala) rs113994167
NM_000018.4(ACADVL):c.1376G>A (p.Arg459Gln) rs751995154
NM_000021.3(PSEN1):c.1276G>C (p.Ala426Pro) rs63751223
NM_000022.2(ADA):c.320T>C (p.Leu107Pro) rs121908739
NM_000022.2(ADA):c.43C>G (p.His15Asp) rs121908725
NM_000022.2(ADA):c.454C>A (p.Leu152Met) rs121908728
NM_000022.2(ADA):c.986C>T rs121908715
NM_000023.2(SGCA):c.850C>T (p.Arg284Cys) rs137852623
NM_000030.2(AGXT):c.508G>A (p.Gly170Arg) rs121908529
NM_000030.2(AGXT):c.777-1G>C rs180177267
NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter) rs118204429
NM_000036.2(AMPD1):c.959A>T (p.Lys320Ile) rs34526199
NM_000038.5(APC):c.1312+3A>G rs863225311
NM_000038.5(APC):c.1458T>C (p.Tyr486=) rs2229992
NM_000038.5(APC):c.4372C>T (p.Pro1458Ser) rs143796828
NM_000038.5(APC):c.5363G>A (p.Arg1788His) rs201472075
NM_000038.5(APC):c.5801C>T (p.Pro1934Leu) rs587780600
NM_000038.5(APC):c.6639G>A (p.Met2213Ile) rs35540155
NM_000038.5(APC):c.6724A>G (p.Ser2242Gly) rs201375478
NM_000038.5(APC):c.7036C>T (p.Pro2346Ser) rs200756935
NM_000038.5(APC):c.70C>T (p.Arg24Ter) rs145945630
NM_000038.5(APC):c.8389A>G (p.Ser2797Gly) rs147287751
NM_000038.5(APC):c.933+1G>A rs876660765
NM_000043.5(FAS):c.651+1G>A
NM_000048.3(ASL):c.35G>A (p.Arg12Gln) rs145138923
NM_000050.4(ASS1):c.1069C>T (p.Gln357Ter) rs756859126
NM_000050.4(ASS1):c.1087C>T (p.Arg363Trp) rs121908640
NM_000050.4(ASS1):c.1168G>A (p.Gly390Arg) rs121908641
NM_000050.4(ASS1):c.539G>A (p.Ser180Asn) rs121908638
NM_000050.4(ASS1):c.787G>A (p.Val263Met) rs192838388
NM_000050.4(ASS1):c.970+5G>A rs372128852
NM_000051.3(ATM):c.103C>T (p.Arg35Ter) rs55861249
NM_000051.3(ATM):c.1120C>T (p.Gln374Ter) rs1185204988
NM_000051.3(ATM):c.1442T>G (p.Leu481Ter) rs1555070980
NM_000051.3(ATM):c.1464G>T (p.Trp488Cys) rs377597949
NM_000051.3(ATM):c.1595G>A (p.Cys532Tyr) rs35963548
NM_000051.3(ATM):c.1703G>T (p.Arg568Ile) rs200381392
NM_000051.3(ATM):c.1931C>A (p.Ser644Ter) rs768362387
NM_000051.3(ATM):c.2021A>G (p.His674Arg) rs201762714
NM_000051.3(ATM):c.202A>G (p.Ile68Val) rs35389822
NM_000051.3(ATM):c.2098C>T (p.Gln700Ter) rs786202743
NM_000051.3(ATM):c.2250G>A (p.Lys750=) rs1137887
NM_000051.3(ATM):c.2251-10T>G rs730881346
NM_000051.3(ATM):c.2289T>A (p.Phe763Leu) rs34231402
NM_000051.3(ATM):c.2522A>C (p.Asp841Ala) rs587781812
NM_000051.3(ATM):c.2836A>G (p.Met946Val) rs587781992
NM_000051.3(ATM):c.2921+1G>A rs587781558
NM_000051.3(ATM):c.295A>G (p.Ser99Gly) rs137882485
NM_000051.3(ATM):c.3014A>G (p.Asn1005Ser) rs146531614
NM_000051.3(ATM):c.320G>A (p.Cys107Tyr) rs142358238
NM_000051.3(ATM):c.3242A>G (p.Asn1081Ser) rs368111672
NM_000051.3(ATM):c.334G>A (p.Ala112Thr) rs146382972
NM_000051.3(ATM):c.3372C>G (p.Tyr1124Ter) rs587779833
NM_000051.3(ATM):c.3806A>G (p.Lys1269Arg) rs146017595
NM_000051.3(ATM):c.4324T>C (p.Tyr1442His) rs201666889
NM_000051.3(ATM):c.4507C>T (p.Gln1503Ter) rs1131691164
NM_000051.3(ATM):c.5089A>G (p.Thr1697Ala) rs142455912
NM_000051.3(ATM):c.5890A>G (p.Lys1964Glu) rs201963507
NM_000051.3(ATM):c.5975A>C (p.Lys1992Thr) rs150757822
NM_000051.3(ATM):c.6095G>A (p.Arg2032Lys) rs139770721
NM_000051.3(ATM):c.6200C>A (p.Ala2067Asp) rs397514577
NM_000051.3(ATM):c.7271T>G (p.Val2424Gly) rs28904921
NM_000051.3(ATM):c.7313C>T (p.Thr2438Ile) rs147604227
NM_000051.3(ATM):c.742C>T (p.Arg248Ter) rs730881336
NM_000051.3(ATM):c.7792C>T (p.Arg2598Ter) rs138941496
NM_000051.3(ATM):c.8786+1G>A rs17174393
NM_000051.3(ATM):c.8977C>T (p.Arg2993Ter) rs770641163
NM_000053.3(ATP7B):c.1708-5T>G rs770829226
NM_000053.3(ATP7B):c.1924G>T (p.Asp642Tyr) rs72552285
NM_000053.3(ATP7B):c.1934T>G (p.Met645Arg) rs121907998
NM_000053.3(ATP7B):c.3207C>A (p.His1069Gln) rs76151636
NM_000053.3(ATP7B):c.3659C>T (p.Thr1220Met) rs193922107
NM_000053.3(ATP7B):c.3955C>T (p.Arg1319Ter) rs193922109
NM_000055.2(BCHE):c.293A>G (p.Asp98Gly) rs1799807
NM_000057.2(BLM):c.98+1G>T rs750293380
NM_000057.3(BLM):c.11T>C (p.Val4Ala) rs144706057
NM_000057.3(BLM):c.1642C>T (p.Gln548Ter) rs200389141
NM_000057.3(BLM):c.191A>T (p.Asp64Val) rs140382474
NM_000057.3(BLM):c.2695C>T (p.Arg899Ter) rs587779884
NM_000059.3(BRCA2):c.10094_10095insGAATTATATC (p.Ser3366Asnfs) rs1064792995
NM_000059.3(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426
NM_000059.3(BRCA2):c.1114A>C (p.Asn372His) rs144848
NM_000059.3(BRCA2):c.145G>T (p.Glu49Ter) rs80358435
NM_000059.3(BRCA2):c.1568A>G (p.His523Arg) rs80358443
NM_000059.3(BRCA2):c.2482T>C (p.Tyr828His) rs1060502466
NM_000059.3(BRCA2):c.2751A>G (p.Val917=) rs765644162
NM_000059.3(BRCA2):c.2918C>T (p.Ser973Leu) rs397507296
NM_000059.3(BRCA2):c.2971A>G (p.Asn991Asp) rs1799944
NM_000059.3(BRCA2):c.3420T>C (p.Ser1140=) rs118093942
NM_000059.3(BRCA2):c.3516G>A (p.Ser1172=) rs1799952
NM_000059.3(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485
NM_000059.3(BRCA2):c.4068G>A (p.Leu1356=) rs28897724
NM_000059.3(BRCA2):c.4241C>T (p.Thr1414Met) rs70953664
NM_000059.3(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727
NM_000059.3(BRCA2):c.4535G>A (p.Arg1512His) rs80358685
NM_000059.3(BRCA2):c.5199C>T (p.Ser1733=) rs28897734
NM_000059.3(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755
NM_000059.3(BRCA2):c.551T>C (p.Leu184Pro) rs80358775
NM_000059.3(BRCA2):c.5552T>G (p.Ile1851Ser) rs80358776
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) rs4987048
NM_000059.3(BRCA2):c.5946delT (p.Ser1982Argfs) rs80359550
NM_000059.3(BRCA2):c.5962G>A (p.Val1988Ile) rs28897739
NM_000059.3(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954
NM_000059.3(BRCA2):c.6347A>G (p.His2116Arg) rs55953736
NM_000059.3(BRCA2):c.6706G>A (p.Glu2236Lys) rs41293503
NM_000059.3(BRCA2):c.68-7T>A rs81002830
NM_000059.3(BRCA2):c.6853A>G (p.Ile2285Val) rs56272235
NM_000059.3(BRCA2):c.6877T>C (p.Phe2293Leu) rs80358912
NM_000059.3(BRCA2):c.7051G>A (p.Ala2351Thr) rs80358930
NM_000059.3(BRCA2):c.7463G>A (p.Arg2488Lys) rs80358968
NM_000059.3(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707
NM_000059.3(BRCA2):c.7625C>T (p.Thr2542Met) rs80358989
NM_000059.3(BRCA2):c.7879A>T (p.Ile2627Phe) rs80359014
NM_000059.3(BRCA2):c.7988A>T (p.Glu2663Val) rs80359031
NM_000059.3(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747
NM_000059.3(BRCA2):c.8167G>C (p.Asp2723His) rs41293511
NM_000059.3(BRCA2):c.8460A>C (p.Val2820=) rs9590940
NM_000059.3(BRCA2):c.8488-1G>A rs397507404
NM_000059.3(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769
NM_000059.3(BRCA2):c.9253dupA (p.Thr3085Asnfs) rs80359752
NM_000059.3(BRCA2):c.9257-16T>C rs11571818
NM_000059.3(BRCA2):c.9292T>C (p.Tyr3098His) rs41293521
NM_000059.3(BRCA2):c.9699_9702delTATG (p.Cys3233Trpfs) rs80359775
NM_000059.3(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833
NM_000064.3(C3):c.463A>C (p.Lys155Gln) rs147859257
NM_000070.2(CAPN3):c.1319G>A rs376107921
NM_000070.2(CAPN3):c.133G>A (p.Ala45Thr) rs774048743
NM_000070.2(CAPN3):c.1468C>T (p.Arg490Trp) rs141656719
NM_000070.2(CAPN3):c.1621C>T (p.Arg541Trp) rs142004418
NM_000070.2(CAPN3):c.1993-1G>A rs369552114
NM_000070.2(CAPN3):c.2243G>A (p.Arg748Gln) rs587780290
NM_000071.2(CBS):c.1135C>T (p.Arg379Trp) rs769080151
NM_000071.2(CBS):c.1330G>A (p.Asp444Asn) rs28934891
NM_000071.2(CBS):c.146C>T (p.Pro49Leu) rs148865119
NM_000071.2(CBS):c.341C>T (p.Ala114Val) rs121964964
NM_000075.3(CDK4):c.779T>A (p.Val260Glu) rs200215596
NM_000077.4(CDKN2A):c.71G>C (p.Arg24Pro) rs104894097
NM_000082.3(ERCC8):c.1042-2A>G rs372237310
NM_000083.2(CLCN1):c.689G>A (p.Gly230Glu) rs80356700
NM_000083.2(CLCN1):c.803C>T (p.Thr268Met) rs80356687
NM_000083.2(CLCN1):c.950G>A (p.Arg317Gln) rs80356702
NM_000088.3(COL1A1):c.3040C>T (p.Arg1014Cys) rs72653170
NM_000088.3(COL1A1):c.985G>C (p.Gly329Arg) rs1555574303
NM_000089.3(COL1A2):c.3034G>A (p.Gly1012Ser) rs72659319
NM_000090.3(COL3A1):c.3818A>G (p.Lys1273Arg) rs144614075
NM_000090.3(COL3A1):c.970G>A (p.Gly324Ser) rs587779650
NM_000091.4(COL4A3):c.2371C>T (p.Arg791Ter) rs1060499654
NM_000091.4(COL4A3):c.391G>T (p.Glu131Ter) rs1346138010
NM_000091.4(COL4A3):c.765G>A (p.Thr255=) rs869025328
NM_000094.3(COL7A1):c.1637-1G>A rs886058642
NM_000094.3(COL7A1):c.5820G>A (p.Pro1940=) rs200972872
NM_000096.3(CP):c.2158C>T (p.Arg720Trp) rs145784949
NM_000096.3(CP):c.2684G>C (p.Gly895Ala) rs139633388
NM_000098.2(CPT2):c.1148T>A (p.Phe383Tyr) rs74315295
NM_000098.2(CPT2):c.1369A>T (p.Lys457Ter) rs756931329
NM_000098.2(CPT2):c.338C>T (p.Ser113Leu) rs74315294
NM_000098.2(CPT2):c.359A>G (p.Tyr120Cys) rs121918528
NM_000100.3(CSTB):c.67-1G>C rs147484110
NM_000104.3(CYP1B1):c.182G>A (p.Gly61Glu) rs28936700
NM_000110.3(DPYD):c.208C>T (p.Arg70Ter) rs141597515
NM_000110.3(DPYD):c.2275C>T (p.Arg759Ter) rs759372918
NM_000110.3(DPYD):c.661G>T (p.Glu221Ter) rs146170505
NM_000112.3(SLC26A2):c.-26+2T>C rs386833492
NM_000112.3(SLC26A2):c.835C>T (p.Arg279Trp) rs104893915
NM_000118.3(ENG):c.68-1G>A rs878853659
NM_000124.2(ERCC6):c.1834C>T (p.Arg612Ter) rs376526037
NM_000124.3(ERCC6):c.1659G>T (p.Lys553Asn) rs116373975
NM_000124.3(ERCC6):c.1996C>T (p.Arg666Cys) rs61760163
NM_000124.3(ERCC6):c.3122A>C (p.Gln1041Pro) rs139007661
NM_000128.3(F11):c.1107C>A (p.Tyr369Ter) rs773905328
NM_000128.3(F11):c.1234C>T (p.Gln412Ter) rs538083600
NM_000128.3(F11):c.1556G>A (p.Trp519Ter) rs201007090
NM_000128.3(F11):c.400C>T (p.Gln134Ter) rs756908183
NM_000128.3(F11):c.901T>C (p.Phe301Leu) rs121965064
NM_000135.2(FANCA):c.3391A>G (p.Thr1131Ala) rs574034197
NM_000135.3(FANCA):c.1226-2A>G rs773906241
NM_000135.3(FANCA):c.1A>G (p.Met1Val) rs772751654
NM_000135.3(FANCA):c.2557C>T (p.Arg853Ter) rs752160950
NM_000136.2(FANCC):c.1642C>T (p.Arg548Ter) rs104886457
NM_000136.2(FANCC):c.65G>A (p.Trp22Ter) rs377294947
NM_000137.2(FAH):c.1062+5G>A rs80338901
NM_000137.2(FAH):c.192G>T (p.Gln64His) rs80338894
NM_000137.2(FAH):c.456G>A (p.Trp152Ter) rs370686447
NM_000137.2(FAH):c.554-1G>T rs80338895
NM_000137.2(FAH):c.782C>T (p.Pro261Leu) rs80338898
NM_000138.4(FBN1):c.1462T>C (p.Cys488Arg) rs1555400373
NM_000138.4(FBN1):c.1468+5G>A rs397515757
NM_000138.4(FBN1):c.1633C>T (p.Arg545Cys) rs730880099
NM_000138.4(FBN1):c.1948C>T (p.Arg650Cys) rs193922185
NM_000138.4(FBN1):c.2645C>T (p.Ala882Val) rs794728195
NM_000138.4(FBN1):c.3712G>A (p.Asp1238Asn) rs794728208
NM_000138.4(FBN1):c.4306G>A (p.Val1436Met) rs377338217
NM_000138.4(FBN1):c.4388A>G (p.Asn1463Ser) rs1555397413
NM_000138.4(FBN1):c.4441A>G (p.Ser1481Gly) rs61730054
NM_000138.4(FBN1):c.4588C>T (p.Arg1530Cys) rs111401431
NM_000138.4(FBN1):c.4750G>A (p.Glu1584Lys) rs148888513
NM_000138.4(FBN1):c.6806T>C (p.Ile2269Thr) rs193922228
NM_000138.4(FBN1):c.718C>T (p.Arg240Cys) rs137854480
NM_000138.4(FBN1):c.7754T>C (p.Ile2585Thr) rs727503054
NM_000138.4(FBN1):c.7828G>A (p.Glu2610Lys) rs111984349
NM_000141.4(FGFR2):c.1013G>A (p.Gly338Glu) rs1057519044
NM_000141.4(FGFR2):c.1025G>A (p.Cys342Tyr) rs121918487
NM_000141.4(FGFR2):c.1124A>G (p.Tyr375Cys) rs121913478
NM_000141.4(FGFR2):c.758C>G (p.Pro253Arg) rs77543610
NM_000142.4(FGFR3):c.1138G>A (p.Gly380Arg) rs28931614
NM_000142.4(FGFR3):c.1949A>C (p.Lys650Thr) rs121913105
NM_000142.4(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_000142.4(FGFR3):c.746C>G (p.Ser249Cys) rs121913483
NM_000143.3(FH):c.952C>T (p.His318Tyr) rs398123168
NM_000152.3(GAA):c.1392G>C (p.Arg464Ser) rs372786811
NM_000152.3(GAA):c.1979G>A (p.Arg660His) rs374143224
NM_000152.3(GAA):c.2560C>T (p.Arg854Ter) rs121907943
NM_000152.3(GAA):c.2608C>T (p.Arg870Ter) rs780321415
NM_000152.4(GAA):c.-32-13T>G rs386834236
NM_000152.4(GAA):c.1465G>A (p.Asp489Asn) rs398123169
NM_000152.4(GAA):c.169C>T (p.Gln57Ter) rs1057516251
NM_000152.4(GAA):c.2238G>C (p.Trp746Cys) rs1800312
NM_000153.3(GALC):c.1586C>T (p.Thr529Met) rs200960659
NM_000153.3(GALC):c.1592G>A (p.Arg531His) rs200378205
NM_000155.3(GALT):c.404C>T (p.Ser135Leu) rs111033690
NM_000155.3(GALT):c.508-1G>C rs398123181
NM_000155.3(GALT):c.997C>T (p.Arg333Trp) rs111033800
NM_000156.5(GAMT):c.327G>A (p.Lys109=) rs80338735
NM_000157.3(GBA):c.1342G>C (p.Asp448His) rs1064651
NM_000157.3(GBA):c.1604G>A (p.Arg535His) rs75822236
NM_000158.3(GBE1):c.986A>C (p.Tyr329Ser) rs80338671
NM_000159.3(GCDH):c.1093G>A (p.Glu365Lys) rs121434370
NM_000159.3(GCDH):c.1198G>A (p.Val400Met) rs121434372
NM_000159.3(GCDH):c.1204C>T (p.Arg402Trp) rs121434369
NM_000159.3(GCDH):c.395G>A (p.Arg132Gln) rs200639270
NM_000159.3(GCDH):c.680G>C (p.Arg227Pro) rs121434373
NM_000159.3(GCDH):c.877G>A (p.Ala293Thr) rs121434371
NM_000159.4(GCDH):c.416C>T (p.Ser139Leu) rs139851890
NM_000162.5(GCK):c.676G>A (p.Val226Met) rs148311934
NM_000163.4(GHR):c.535C>T (p.Arg179Cys) rs121909362
NM_000169.2(GLA):c.1088G>A (p.Arg363His) rs111422676
NM_000169.2(GLA):c.335G>A (p.Arg112His) rs372966991
NM_000170.2(GLDC):c.1545G>C (p.Arg515Ser) rs121964976
NM_000170.2(GLDC):c.1786C>T (p.Arg596Ter) rs386833531
NM_000170.2(GLDC):c.2838+2T>C rs1554641887
NM_000174.4(GP9):c.182A>G (p.Asn61Ser) rs5030764
NM_000179.2(MSH6):c.1063G>A (p.Gly355Ser) rs587778531
NM_000179.2(MSH6):c.10C>T (p.Gln4Ter) rs786201042
NM_000179.2(MSH6):c.187T>C (p.Ser63Pro) rs763702846
NM_000179.2(MSH6):c.2561A>T (p.Lys854Met) rs34374438
NM_000179.2(MSH6):c.3217C>T (p.Pro1073Ser) rs142254875
NM_000179.2(MSH6):c.3259C>T (p.Pro1087Ser) rs63750998
NM_000179.2(MSH6):c.3260C>G (p.Pro1087Arg) rs63750753
NM_000179.2(MSH6):c.3605T>C (p.Met1202Thr) rs587779273
NM_000179.2(MSH6):c.73G>T (p.Ala25Ser) rs267608026
NM_000181.3(GUSB):c.1144C>T (p.Arg382Cys) rs121918173
NM_000181.3(GUSB):c.454G>A (p.Asp152Asn) rs149606212
NM_000187.3(HGD):c.1102A>G (p.Met368Val) rs120074173
NM_000187.3(HGD):c.481G>A (p.Gly161Arg) rs28941783
NM_000191.2(HMGCL):c.698A>G (p.His233Arg) rs727503963
NM_000192.3(TBX5):c.510+5G>A rs1555226301
NM_000199.3(SGSH):c.697C>T (p.Arg233Ter) rs374621913
NM_000199.3(SGSH):c.877C>T (p.Pro293Ser) rs143947056
NM_000199.4(SGSH):c.1297C>T (p.Arg433Trp) rs777267343
NM_000218.2(KCNQ1):c.1085A>G (p.Lys362Arg) rs12720458
NM_000218.2(KCNQ1):c.1747C>T (p.Arg583Cys) rs17221854
NM_000222.2(KIT):c.2881G>A (p.Gly961Ser) rs773828910
NM_000226.3(KRT9):c.487C>T (p.Arg163Trp) rs59616921
NM_000228.2(LAMB3):c.124C>T (p.Arg42Ter) rs80356680
NM_000228.2(LAMB3):c.1903C>T (p.Arg635Ter) rs80356682
NM_000231.2(SGCG):c.848G>A (p.Cys283Tyr) rs104894422
NM_000235.3(LIPA):c.894G>A (p.Gln298=) rs116928232
NM_000238.3(KCNH2):c.3436A>T (p.Thr1146Ser) rs778879572
NM_000238.3(KCNH2):c.568G>A (p.Ala190Thr) rs150817714
NM_000238.3(KCNH2):c.934C>T (p.Arg312Cys) rs199472885
NM_000243.2(MEFV):c.2080A>G (p.Met694Val) rs61752717
NM_000243.2(MEFV):c.2082G>A (p.Met694Ile) rs28940578
NM_000243.2(MEFV):c.2177T>C (p.Val726Ala) rs28940579
NM_000243.2(MEFV):c.2282G>A (p.Arg761His) rs104895097
NM_000249.3(MLH1):c.1013A>G (p.Asn338Ser) rs63751467
NM_000249.3(MLH1):c.1151T>A (p.Val384Asp) rs63750447
NM_000249.3(MLH1):c.1166G>A (p.Arg389Gln) rs63750361
NM_000249.3(MLH1):c.1360G>C (p.Gly454Arg) rs63750527
NM_000249.3(MLH1):c.1558+5G>A rs199935667
NM_000249.3(MLH1):c.1897-2A>G rs267607871
NM_000249.3(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000249.3(MLH1):c.2059C>T (p.Arg687Trp) rs63751275
NM_000249.3(MLH1):c.2174G>A (p.Arg725His) rs566928243
NM_000249.3(MLH1):c.65G>C (p.Gly22Ala) rs41295280
NM_000249.3(MLH1):c.885-1G>A
NM_000249.3(MLH1):c.91_92delGCinsTG (p.Ala31Cys) rs63749994
NM_000249.3(MLH1):c.955G>A (p.Glu319Lys) rs63750796
NM_000251.2(MSH2):c.1045C>G (p.Pro349Ala) rs267607939
NM_000251.2(MSH2):c.1217G>A (p.Arg406Gln) rs146567853
NM_000251.2(MSH2):c.128A>G (p.Tyr43Cys) rs17217723
NM_000251.2(MSH2):c.138C>G (p.His46Gln) rs33946261
NM_000251.2(MSH2):c.1748A>G (p.Asn583Ser) rs201118107
NM_000251.2(MSH2):c.1787A>G (p.Asn596Ser) rs41295288
NM_000251.2(MSH2):c.2516A>G (p.His839Arg) rs63750027
NM_000251.2(MSH2):c.435T>G (p.Ile145Met) rs63750124
NM_000255.3(MMUT):c.1956+2T>C rs750619189
NM_000256.3(MYBPC3):c.1484G>A (p.Arg495Gln) rs200411226
NM_000256.3(MYBPC3):c.2308G>A (p.Asp770Asn) rs36211723
NM_000256.3(MYBPC3):c.2311G>A (p.Val771Met) rs371488302
NM_000256.3(MYBPC3):c.2449C>T (p.Arg817Trp) rs727503188
NM_000256.3(MYBPC3):c.3190+5G>A rs587782958
NM_000256.3(MYBPC3):c.3330+5G>C rs373746463
NM_000256.3(MYBPC3):c.3811C>T (p.Arg1271Ter) rs397516042
NM_000256.3(MYBPC3):c.772G>A (p.Glu258Lys) rs397516074
NM_000256.3(MYBPC3):c.927-9G>A rs397516083
NM_000257.3(MYH7):c.1987C>T (p.Arg663Cys) rs397516127
NM_000257.3(MYH7):c.2389G>A (p.Ala797Thr) rs3218716
NM_000257.3(MYH7):c.2770G>A (p.Glu924Lys) rs121913628
NM_000257.3(MYH7):c.2788G>C (p.Glu930Gln) rs397516171
NM_000257.3(MYH7):c.715G>A (p.Asp239Asn) rs397516264
NM_000257.3(MYH7):c.746G>A (p.Arg249Gln) rs3218713
NM_000257.3(MYH7):c.976G>C (p.Ala326Pro) rs372731424
NM_000257.4(MYH7):c.1988G>A (p.Arg663His) rs371898076
NM_000257.4(MYH7):c.3981C>A (p.Asn1327Lys) rs141764279
NM_000260.3(MYO7A):c.1969C>T rs878853236
NM_000260.3(MYO7A):c.2005C>T (p.Arg669Ter) rs111033201
NM_000260.3(MYO7A):c.2489G>A (p.Arg830His) rs371029653
NM_000260.3(MYO7A):c.3508G>A (p.Glu1170Lys) rs111033214
NM_000260.3(MYO7A):c.3719G>A (p.Arg1240Gln) rs111033178
NM_000260.3(MYO7A):c.3724C>T (p.Gln1242Ter) rs1057517857
NM_000260.3(MYO7A):c.4006C>T (p.Gln1336Ter)
NM_000260.3(MYO7A):c.5573T>C (p.Leu1858Pro) rs368657015
NM_000260.3(MYO7A):c.6028G>A (p.Asp2010Asn) rs755934966
NM_000260.4(MYO7A):c.1007G>A (p.Arg336His) rs45629132
NM_000262.2(NAGA):c.973G>A (p.Glu325Lys) rs121434529
NM_000263.3(NAGLU):c.1834A>G (p.Ser612Gly) rs148881970
NM_000267.3(NF1):c.2446C>T (p.Arg816Ter) rs886041347
NM_000267.3(NF1):c.2585C>G (p.Thr862Ser) rs200302954
NM_000267.3(NF1):c.3447G>T (p.Met1149Ile) rs1064794277
NM_000267.3(NF1):c.4267A>G (p.Lys1423Glu) rs137854550
NM_000267.3(NF1):c.5426G>T (p.Arg1809Leu) rs771529172
NM_000267.3(NF1):c.5943+1G>A rs1555534433
NM_000267.3(NF1):c.8042A>T (p.Tyr2681Phe) rs201824349
NM_000270.3(PNP):c.286-18G>A rs1026474882
NM_000271.4(NPC1):c.1211G>A (p.Arg404Gln) rs139751448
NM_000271.4(NPC1):c.1554-1009G>A rs1055204017
NM_000271.4(NPC1):c.1628C>T (p.Pro543Leu) rs369368181
NM_000271.4(NPC1):c.2621A>T (p.Asp874Val) rs372030650
NM_000271.4(NPC1):c.2848G>A (p.Val950Met) rs120074135
NM_000271.4(NPC1):c.2861C>T (p.Ser954Leu) rs543206298
NM_000271.4(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257
NM_000271.4(NPC1):c.3182T>C (p.Ile1061Thr) rs80358259
NM_000272.3(NPHP1):c.232T>C (p.Tyr78His) rs140446520
NM_000275.2(OCA2):c.1327G>A (p.Val443Ile) rs121918166
NM_000275.2(OCA2):c.1503+5G>A rs368124046
NM_000275.2(OCA2):c.2228C>T (p.Pro743Leu) rs121918167
NM_000277.1(PAH):c.1033G>T (p.Ala345Ser) rs62516062
NM_000277.1(PAH):c.1045T>C (p.Ser349Pro) rs62508646
NM_000277.1(PAH):c.165T>G (p.Phe55Leu) rs199475598
NM_000277.1(PAH):c.283A>T (p.Ile95Phe) rs62508682
NM_000277.1(PAH):c.611A>G (p.Tyr204Cys) rs62514927
NM_000277.1(PAH):c.896T>G (p.Phe299Cys) rs62642933
NM_000277.2(PAH):c.261C>A (p.Ser87Arg) rs62516151
NM_000277.2(PAH):c.913-7A>G rs62517165
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937
NM_000277.3(PAH):c.1169A>G (p.Glu390Gly) rs5030856
NM_000277.3(PAH):c.1243G>A (p.Asp415Asn) rs62644499
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786
NM_000277.3(PAH):c.441+5G>T rs62507321
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152
NM_000277.3(PAH):c.734T>C (p.Val245Ala) rs76212747
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849
NM_000277.3(PAH):c.842C>T (p.Pro281Leu) rs5030851
NM_000277.3(PAH):c.916A>G (p.Ile306Val) rs62642934
NM_000280.4(PAX6):c.1268A>T (p.Ter423Leu) rs121907922
NM_000287.3(PEX6):c.2440C>T (p.Arg814Ter) rs267608241
NM_000288.3(PEX7):c.377A>C (p.Gln126Pro) rs113268723
NM_000288.3(PEX7):c.875T>A (p.Leu292Ter) rs1805137
NM_000296.3(PKD1):c.2534T>C (p.Leu845Ser) rs199476100
NM_000298.5(PKLR):c.1456C>T (p.Arg486Trp) rs116100695
NM_000303.2(PMM2):c.255+1G>A rs1060499598
NM_000303.2(PMM2):c.255+2T>C rs139716296
NM_000303.2(PMM2):c.422G>A (p.Arg141His) rs28936415
NM_000303.2(PMM2):c.470T>C (p.Phe157Ser) rs190521996
NM_000303.2(PMM2):c.710C>G (p.Thr237Arg) rs80338708
NM_000303.2(PMM2):c.710C>T (p.Thr237Met) rs80338708
NM_000303.2(PMM2):c.722G>C (p.Cys241Ser) rs80338709
NM_000310.3(PPT1):c.451C>T (p.Arg151Ter) rs137852700
NM_000310.3(PPT1):c.904A>G (p.Ile302Val) rs146902902
NM_000314.4(PTEN):c.-764G>A rs587776674
NM_000314.6(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.6(PTEN):c.253+2T>A rs1224040268
NM_000314.6(PTEN):c.517C>T (p.Arg173Cys) rs121913293
NM_000314.6(PTEN):c.860C>G (p.Ser287Ter) rs863224909
NM_000314.6(PTEN):c.882T>G (p.Ser294Arg) rs143335584
NM_000314.7(PTEN):c.235G>A (p.Ala79Thr) rs202004587
NM_000321.2(RB1):c.1981C>T (p.Arg661Trp) rs137853294
NM_000329.2(RPE65):c.304G>T (p.Glu102Ter) rs62642584
NM_000334.4(SCN4A):c.664C>T (p.Arg222Trp) rs527236148
NM_000335.4(SCN5A):c.1282G>A (p.Glu428Lys) rs199473111
NM_000339.2(SLC12A3):c.2191G>A (p.Gly731Arg)
NM_000339.2(SLC12A3):c.2891G>A (p.Arg964Gln) rs202114767
NM_000339.2(SLC12A3):c.2965G>A (p.Gly989Arg)
NM_000350.2(ABCA4):c.1648G>A (p.Gly550Arg) rs61748558
NM_000350.2(ABCA4):c.179C>T (p.Ala60Val) rs55732384
NM_000350.2(ABCA4):c.3113C>T (p.Ala1038Val) rs61751374
NM_000350.2(ABCA4):c.3386G>T (p.Arg1129Leu) rs1801269
NM_000350.2(ABCA4):c.4139C>T (p.Pro1380Leu) rs61750130
NM_000350.2(ABCA4):c.4462T>C (p.Cys1488Arg) rs61750146
NM_000350.2(ABCA4):c.466A>G (p.Ile156Val) rs62646863
NM_000350.2(ABCA4):c.5461-10T>C rs1800728
NM_000350.2(ABCA4):c.6089G>A (p.Arg2030Gln) rs61750641
NM_000350.2(ABCA4):c.634C>T (p.Arg212Cys) rs61750200
NM_000350.2(ABCA4):c.768G>T (p.Val256=) rs62645944
NM_000352.4(ABCC8):c.413-5G>A rs186946111
NM_000352.4(ABCC8):c.4306C>T (p.Arg1436Ter) rs193922402
NM_000352.4(ABCC8):c.4432G>A (p.Gly1478Arg) rs72559715
NM_000359.2(TGM1):c.1417G>A (p.Gly473Ser) rs904122716
NM_000359.2(TGM1):c.944G>T (p.Arg315Leu) rs143473912
NM_000363.4(TNNI3):c.434G>A (p.Arg145Gln) rs397516349
NM_000363.4(TNNI3):c.485G>A (p.Arg162Gln) rs397516354
NM_000368.4(TSC1):c.2075G>A (p.Arg692Gln) rs199755731
NM_000371.3(TTR):c.250T>C (p.Phe84Leu) rs121918091
NM_000372.4(TYR):c.1037-7T>A rs61754381
NM_000372.4(TYR):c.1147G>A (p.Asp383Asn) rs121908011
NM_000372.4(TYR):c.1199G>T (p.Trp400Leu) rs62645916
NM_000372.4(TYR):c.1217C>T (p.Pro406Leu) rs104894313
NM_000372.4(TYR):c.140G>A (p.Gly47Asp) rs61753180
NM_000372.4(TYR):c.649C>T (p.Arg217Trp) rs63159160
NM_000372.4(TYR):c.823G>T (p.Val275Phe) rs104894314
NM_000372.4(TYR):c.832C>T (p.Arg278Ter) rs62645904
NM_000391.3(TPP1):c.509-1G>C rs56144125
NM_000391.3(TPP1):c.622C>T (p.Arg208Ter) rs119455955
NM_000392.5(ABCC2):c.2273G>T (p.Gly758Val) rs786205465
NM_000400.3(ERCC2):c.2047C>T (p.Arg683Trp) rs41556519
NM_000402.4(G6PD):c.1093G>A (p.Ala365Thr) rs5030869
NM_000402.4(G6PD):c.1478G>A (p.Arg493His) rs72554664
NM_000402.4(G6PD):c.577G>A (p.Gly193Ser) rs137852314
NM_000402.4(G6PD):c.653C>T (p.Ser218Phe) rs5030868
NM_000402.4(G6PD):c.934G>C (p.Asp312His) rs137852318
NM_000402.4(G6PD):c.961G>A (p.Val321Met) rs137852327
NM_000404.2(GLB1):c.464T>G (p.Leu155Arg) rs376710410
NM_000404.3(GLB1):c.1325G>A (p.Arg442Gln) rs564428355
NM_000404.3(GLB1):c.1733A>G (p.Lys578Arg) rs371582179
NM_000404.3(GLB1):c.443G>A (p.Arg148His) rs745864233
NM_000410.3(HFE):c.187C>G (p.His63Asp) rs1799945
NM_000410.3(HFE):c.193A>T (p.Ser65Cys) rs1800730
NM_000414.3(HSD17B4):c.1516C>T (p.Arg506Cys) rs766199971
NM_000426.3(LAMA2):c.6161A>G (p.Gln2054Arg) rs56035053
NM_000426.3(LAMA2):c.7074C>A (p.Tyr2358Ter) rs762806915
NM_000426.3(LAMA2):c.8244+1G>A rs749522728
NM_000426.3(LAMA2):c.9211+6T>C rs201375881
NM_000432.3(MYL2):c.173G>A (p.Arg58Gln) rs104894369
NM_000435.2(NOTCH3):c.1630C>T (p.Arg544Cys) rs201118034
NM_000435.2(NOTCH3):c.1819C>T (p.Arg607Cys) rs777751303
NM_000435.2(NOTCH3):c.3296G>A (p.Cys1099Tyr) rs1555727841
NM_000435.2(NOTCH3):c.451C>G (p.Gln151Glu) rs371491165
NM_000435.2(NOTCH3):c.619C>T (p.Arg207Cys) rs775267348
NM_000441.1(SLC26A4):c.-3-2A>G rs397516411
NM_000441.1(SLC26A4):c.1001+1G>A rs80338849
NM_000441.1(SLC26A4):c.1001G>T (p.Gly334Val) rs146281367
NM_000441.1(SLC26A4):c.1003T>C (p.Phe335Leu) rs111033212
NM_000441.1(SLC26A4):c.1229C>T (p.Thr410Met) rs111033220
NM_000441.1(SLC26A4):c.1246A>C (p.Thr416Pro) rs28939086
NM_000441.1(SLC26A4):c.1790T>C (p.Leu597Ser) rs55638457
NM_000441.1(SLC26A4):c.2171A>G (p.Asp724Gly) rs757820624
NM_000441.1(SLC26A4):c.578C>T rs111033348
NM_000441.1(SLC26A4):c.706C>G (p.Leu236Val) rs111033242
NM_000441.1(SLC26A4):c.707T>C (p.Leu236Pro) rs80338848
NM_000441.1(SLC26A4):c.919-2A>G rs111033313
NM_000448.2(RAG1):c.1303A>G (p.Met435Val) rs141524540
NM_000455.4(STK11):c.632G>A (p.Arg211Gln) rs730881982
NM_000457.4(HNF4A):c.1387A>G (p.Ile463Val) rs147638455
NM_000463.2(UGT1A1):c.1091C>T (p.Pro364Leu) rs34946978
NM_000463.2(UGT1A1):c.1456T>G (p.Tyr486Asp) rs34993780
NM_000465.3(BARD1):c.1835A>T (p.Asp612Val) rs201140528
NM_000465.3(BARD1):c.1996C>T (p.Gln666Ter) rs730881422
NM_000465.3(BARD1):c.2116A>G (p.Lys706Glu) rs149262370
NM_000465.3(BARD1):c.568G>A (p.Asp190Asn) rs369561166
NM_000465.3(BARD1):c.668A>G (p.Glu223Gly) rs145009419
NM_000465.3(BARD1):c.716T>A (p.Leu239Gln) rs200359745
NM_000465.3(BARD1):c.73G>C (p.Ala25Pro) rs751646468
NM_000466.2(PEX1):c.1991T>C (p.Leu664Pro) rs121434455
NM_000478.4(ALPL):c.400_401delACinsCA (p.Thr134His) rs786204530
NM_000478.4(ALPL):c.571G>A (p.Glu191Lys) rs121918007
NM_000478.5(ALPL):c.1001G>A (p.Gly334Asp) rs121918009
NM_000478.5(ALPL):c.1471G>A (p.Gly491Arg) rs1413274209
NM_000478.5(ALPL):c.526G>A (p.Ala176Thr) rs121918019
NM_000487.5(ARSA):c.1283C>T (p.Pro428Leu) rs28940893
NM_000487.5(ARSA):c.257G>A (p.Arg86Gln) rs74315458
NM_000487.5(ARSA):c.465+1G>A rs80338815
NM_000487.5(ARSA):c.542T>G (p.Ile181Ser) rs74315457
NM_000487.5(ARSA):c.827C>T (p.Thr276Met) rs74315472
NM_000489.5(ATRX):c.3211G>A (p.Gly1071Arg) rs143621153
NM_000492.3(CFTR):c.1055G>A (p.Arg352Gln) rs121908753
NM_000492.3(CFTR):c.1364C>A (p.Ala455Glu) rs74551128
NM_000492.3(CFTR):c.1367T>C (p.Val456Ala) rs193922500
NM_000492.3(CFTR):c.1475C>T (p.Ser492Phe) rs121909017
NM_000492.3(CFTR):c.1624G>T (p.Gly542Ter) rs113993959
NM_000492.3(CFTR):c.1647T>G (p.Ser549Arg) rs121909005
NM_000492.3(CFTR):c.1652G>A (p.Gly551Asp) rs75527207
NM_000492.3(CFTR):c.1865G>A (p.Gly622Asp) rs121908759
NM_000492.3(CFTR):c.2002C>T (p.Arg668Cys) rs1800100
NM_000492.3(CFTR):c.2421A>G (p.Ile807Met) rs1800103
NM_000492.3(CFTR):c.2758G>A (p.Val920Met) rs373885282
NM_000492.3(CFTR):c.293A>G (p.Gln98Arg) rs397508464
NM_000492.3(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000492.3(CFTR):c.3731G>A (p.Gly1244Glu) rs267606723
NM_000492.3(CFTR):c.3846G>A (p.Trp1282Ter) rs77010898
NM_000492.3(CFTR):c.532G>A (p.Gly178Arg) rs80282562
NM_000492.3(CFTR):c.577G>T (p.Glu193Ter) rs397508759
NM_000492.3(CFTR):c.595C>T (p.His199Tyr) rs121908802
NM_000492.3(CFTR):c.617T>G (p.Leu206Trp) rs121908752
NM_000492.3(CFTR):c.91C>T (p.Arg31Cys) rs1800073
NM_000495.4(COL4A5):c.4946T>G (p.Leu1649Arg) rs104886303
NM_000500.7(CYP21A2):c.1174G>A (p.Ala392Thr) rs202242769
NM_000500.7(CYP21A2):c.1360C>T (p.Pro454Ser) rs6445
NM_000500.7(CYP21A2):c.293-13C>G rs6467
NM_000500.7(CYP21A2):c.518T>A (p.Ile173Asn) rs6475
NM_000500.7(CYP21A2):c.844G>T (p.Val282Leu) rs6471
NM_000500.7(CYP21A2):c.92C>T (p.Pro31Leu) rs9378251
NM_000516.5(GNAS):c.1A>G (p.Met1Val) rs137854530
NM_000518.5(HBB):c.-137C>A rs33941377
NM_000518.5(HBB):c.-138C>A rs33944208
NM_000521.3(HEXB):c.1250C>T (p.Pro417Leu) rs28942073
NM_000525.3(KCNJ11):c.844G>A (p.Glu282Lys) rs267607196
NM_000527.4(LDLR):c.1055G>A (p.Cys352Tyr) rs193922566
NM_000527.4(LDLR):c.1124A>G (p.Tyr375Cys) rs879254800
NM_000527.4(LDLR):c.1285G>A (p.Val429Met) rs28942078
NM_000527.4(LDLR):c.1634G>A (p.Gly545Glu) rs759876319
NM_000527.4(LDLR):c.1646G>A (p.Gly549Asp) rs28941776
NM_000527.4(LDLR):c.1775G>A (p.Gly592Glu) rs137929307
NM_000527.4(LDLR):c.2043C>A (p.Cys681Ter) rs121908031
NM_000527.4(LDLR):c.2054C>T (p.Pro685Leu) rs28942084
NM_000527.4(LDLR):c.301G>A (p.Glu101Lys) rs144172724
NM_000527.4(LDLR):c.427T>C (p.Cys143Arg) rs875989901
NM_000527.4(LDLR):c.530C>T (p.Ser177Leu) rs121908026
NM_000527.4(LDLR):c.551G>A (p.Cys184Tyr) rs121908039
NM_000527.4(LDLR):c.590G>T (p.Cys197Phe) rs376459828
NM_000527.4(LDLR):c.682G>A (p.Glu228Lys) rs121908029
NM_000527.4(LDLR):c.682G>T (p.Glu228Ter) rs121908029
NM_000530.7(MPZ):c.397C>A (p.Pro133Thr) rs1553259648
NM_000531.5(OTC):c.118C>T (p.Arg40Cys) rs72554307
NM_000532.4(PCCB):c.1304A>G (p.Tyr435Cys) rs121964961
NM_000532.4(PCCB):c.815G>A (p.Arg272Gln) rs150555106
NM_000535.5(PMS2):c.2444C>T (p.Ser815Leu) rs587779338
NM_000535.6(PMS2):c.137G>T (p.Ser46Ile) rs121434629
NM_000535.6(PMS2):c.2012C>T (p.Thr671Met) rs587780046
NM_000535.6(PMS2):c.2149G>A (p.Val717Met) rs201671325
NM_000535.6(PMS2):c.2324A>G (p.Asn775Ser) rs17420802
NM_000535.6(PMS2):c.251-2A>T rs587779340
NM_000535.6(PMS2):c.53T>C (p.Ile18Thr) rs201343342
NM_000535.7(PMS2):c.1556A>G (p.Tyr519Cys) rs63750649
NM_000535.7(PMS2):c.1559C>T (p.Ala520Val) rs63751300
NM_000535.7(PMS2):c.1928A>G (p.Gln643Arg) rs760629688
NM_000535.7(PMS2):c.2350G>A (p.Asp784Asn) rs143340522
NM_000540.2(RYR1):c.10097G>A (p.Arg3366His) rs137932199
NM_000540.2(RYR1):c.10347+1G>A rs111436401
NM_000540.2(RYR1):c.10348-6C>G rs193922837
NM_000540.2(RYR1):c.11763C>A (p.Tyr3921Ter) rs377178986
NM_000540.2(RYR1):c.11798A>G (p.Tyr3933Cys) rs147136339
NM_000540.2(RYR1):c.14126C>T (p.Thr4709Met) rs118192140
NM_000540.2(RYR1):c.14693T>C (p.Ile4898Thr) rs118192170
NM_000540.2(RYR1):c.4711A>G (p.Ile1571Val) rs146429605
NM_000540.2(RYR1):c.7063C>T (p.Arg2355Trp) rs193922803
NM_000543.4(SMPD1):c.872G>A (p.Arg291His) rs1803161
NM_000545.6(HNF1A):c.1135C>G (p.Pro379Ala) rs754729248
NM_000545.6(HNF1A):c.92G>A (p.Gly31Asp) rs137853247
NM_000546.5(TP53):c.466C>T (p.Arg156Cys) rs563378859
NM_000546.5(TP53):c.524G>A (p.Arg175His) rs28934578
NM_000546.5(TP53):c.559+1G>A rs1131691042
NM_000546.5(TP53):c.743G>A (p.Arg248Gln) rs11540652
NM_000546.5(TP53):c.818G>A (p.Arg273His) rs28934576
NM_000546.5(TP53):c.847C>T (p.Arg283Cys) rs149633775
NM_000546.5(TP53):c.96+1G>T rs1131691003
NM_000548.4(TSC2):c.2015C>T (p.Pro672Leu) rs768864353
NM_000551.3(VHL):c.319C>G (p.Arg107Gly) rs397516440
NM_000551.3(VHL):c.499C>T (p.Arg167Trp) rs5030820
NM_000639.2(FASLG):c.466A>G (p.Arg156Gly) rs80358238
NM_000642.2(AGL):c.256C>T (p.Gln86Ter) rs193186112
NM_000709.3(BCKDHA):c.1312T>A (p.Tyr438Asn) rs137852870
NM_000724.3(CACNB2):c.215C>T (p.Ala72Val) rs200367454
NM_000726.4(CACNB4):c.44C>G (p.Pro15Arg) rs200662010
NM_000726.4(CACNB4):c.5C>T (p.Ser2Phe) rs200092211
NM_000784.3(CYP27A1):c.1016C>T (p.Thr339Met) rs121908102
NM_000784.3(CYP27A1):c.1184+1G>A rs587778777
NM_000883.3(IMPDH1):c.1108G>A (p.Ala370Thr) rs72624961
NM_000965.4(RARB):c.1159C>T (p.Arg387Cys) rs397518483
NM_000969.5(RPL5):c.3+3G>C rs200628272
NM_000969.5(RPL5):c.418G>A (p.Gly140Ser) rs121434406
NM_001003841.2(SLC6A19):c.517G>A (p.Asp173Asn) rs121434346
NM_001005741.2(GBA):c.115+1G>A rs104886460
NM_001005741.2(GBA):c.1226A>G (p.Asn409Ser) rs76763715
NM_001005741.2(GBA):c.1297G>T (p.Val433Leu) rs80356769
NM_001005741.2(GBA):c.1504C>T (p.Arg502Cys) rs80356771
NM_001005741.2(GBA):c.887G>A (p.Arg296Gln) rs78973108
NM_001009944.2(PKD1):c.11356G>C (p.Glu3786Gln) rs147992238
NM_001009944.2(PKD1):c.7327G>T (p.Gly2443Ter)
NM_001024847.2(TGFBR2):c.1090C>T (p.Arg364Trp) rs761991787
NM_001029883.2(PCARE):c.1297C>T (p.Pro433Ser) rs200696965
NM_001030311.2(CERKL):c.1381C>T (p.Arg461Ter) rs1187839124
NM_001035.2(RYR2):c.2755G>A (p.Val919Met) rs201079716
NM_001035.2(RYR2):c.4465T>C (p.Cys1489Arg) rs200450676
NM_001037.4(SCN1B):c.363C>G (p.Cys121Trp) rs104894718
NM_001038603.2(MARVELD2):c.898T>A (p.Leu300Met) rs72773422
NM_001040113.1(MYH11):c.5753C>T (p.Thr1918Met) rs748516947
NM_001042492.2(NF1):c.3883A>G (p.Thr1295Ala) rs143836226
NM_001042492.2(NF1):c.5991G>A (p.Trp1997Ter) rs876660696
NM_001042492.2(NF1):c.7909C>T (p.Arg2637Ter) rs786201367
NM_001080522.2(CC2D2A):c.2804G>A (p.Arg935Gln) rs187003641
NM_001080522.2(CC2D2A):c.3055C>T (p.Arg1019Ter) rs370880399
NM_001080522.2(CC2D2A):c.3145C>T (p.Arg1049Ter) rs386833750
NM_001083614.1(EARS2):c.1547G>A (p.Arg516Gln) rs201727231
NM_001098.2(ACO2):c.220C>G (p.Leu74Val) rs141772938
NM_001100913.2(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001103.3(ACTN2):c.1235C>T (p.Thr412Met) rs139515659
NM_001110792.1(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) rs398122822
NM_001127221.1(CACNA1A):c.2137G>A (p.Ala713Thr) rs886037945
NM_001127221.1(CACNA1A):c.4636C>T (p.Arg1546Ter) rs121909324
NM_001127701.1(SERPINA1):c.1096G>A (p.Glu366Lys) rs28929474
NM_001127701.1(SERPINA1):c.194T>C (p.Leu65Pro) rs28931569
NM_001127701.1(SERPINA1):c.863A>T (p.Glu288Val) rs17580
NM_001128227.2(GNE):c.18T>A (p.Tyr6Ter)
NM_001128227.2(GNE):c.2228T>C (p.Met743Thr) rs28937594
NM_001128425.1(MUTYH):c.1187-2A>G rs587781628
NM_001128425.1(MUTYH):c.1187G>A (p.Gly396Asp) rs36053993
NM_001128425.1(MUTYH):c.1420C>T (p.Arg474Cys) rs200229669
NM_001128425.1(MUTYH):c.389-1G>C rs372267274
NM_001128425.1(MUTYH):c.572G>A (p.Arg191Gln) rs369677603
NM_001128425.1(MUTYH):c.734G>A (p.Arg245His) rs140342925
NM_001128425.1(MUTYH):c.985G>A (p.Val329Met) rs147718169
NM_001130438.2(SPTAN1):c.4199A>T (p.Gln1400Leu) rs143108250
NM_001130438.2(SPTAN1):c.7319G>A (p.Arg2440Gln) rs141980692
NM_001134363.2(RBM20):c.1907G>A (p.Arg636His) rs267607004
NM_001134363.2(RBM20):c.3265C>G (p.Pro1089Ala) rs147356378
NM_001135041.2(DCTN1):c.1951C>T (p.Arg651Trp) rs121909344
NM_001135659.2(NRXN1):c.2579G>A (p.Ser860Asn) rs80293130
NM_001135659.2(NRXN1):c.2725C>A (p.Leu909Met) rs201818223
NM_001135659.2(NRXN1):c.322C>T (p.Pro108Ser) rs199784029
NM_001142800.1(EYS):c.2137+1G>A rs199740930
NM_001142800.1(EYS):c.9405T>A (p.Tyr3135Ter) rs137853190
NM_001148.4(ANK2):c.8843C>G (p.Ala2948Gly) rs138438183
NM_001163213.1(FGFR3):c.1626C>G (p.Asn542Lys) rs28933068
NM_001163435.2(TBCK):c.376C>T (p.Arg126Ter) rs575822089
NM_001165963.1(SCN1A):c.1739G>A (p.Arg580Gln) rs544692790
NM_001165963.1(SCN1A):c.3481G>A (p.Ala1161Thr) rs201079458
NM_001166686.1(PFKM):c.450+1G>A rs202143236
NM_001173990.2(TMEM216):c.218G>T (p.Arg73Leu) rs201108965
NM_001173990.2(TMEM216):c.253C>T (p.Arg85Ter) rs11230683
NM_001182.4(ALDH7A1):c.1279G>C (p.Glu427Gln) rs121912707
NM_001184880.1(PCDH19):c.1700C>T (p.Pro567Leu) rs201989363
NM_001199397.1(NEK1):c.3107C>G (p.Ser1036Ter) rs199947197
NM_001257102.1(NDUFB3):c.64T>C (p.Trp22Arg) rs142609245
NM_001271208.1(NEB):c.24094C>T (p.Arg8032Ter) rs549794342
NM_001271208.1(NEB):c.25288C>T (p.Arg8430Ter) rs747179265
NM_001271208.1(NEB):c.3255+1G>T rs375628303
NM_001271208.1(NEB):c.37-1G>A rs1428597732
NM_001271208.2(NEB):c.24559C>T (p.Arg8187Ter) rs763364977
NM_001281723.2(BTD):c.1618C>T (p.Arg540Cys) rs80338686
NM_001281723.2(BTD):c.449G>A (p.Arg150His) rs367902696
NM_001281723.2(BTD):c.517G>A (p.Ala173Thr) rs13073139
NM_001281723.2(BTD):c.601G>A (p.Val201Met) rs397514375
NM_001281724.2(BTD):c.1336G>C (p.Asp446His) rs13078881
NM_001281724.2(BTD):c.1374A>C (p.Gln458His) rs80338685
NM_001287174.1(ABCC8):c.2509C>T (p.Arg837Ter) rs72559722
NM_001290018.1(PRMT7):c.322G>T (p.Glu108Ter) rs1014959895
NM_001360.2(DHCR7):c.1054C>T (p.Arg352Trp) rs80338860
NM_001360.2(DHCR7):c.1210C>T (p.Arg404Cys) rs61757582
NM_001360.2(DHCR7):c.1337G>A (p.Arg446Gln) rs751604696
NM_001360.2(DHCR7):c.1396G>A (p.Val466Met) rs760428437
NM_001360.2(DHCR7):c.1409T>A (p.Leu470Gln) rs1331331095
NM_001360.2(DHCR7):c.292C>T (p.Gln98Ter) rs104886039
NM_001360.2(DHCR7):c.452G>A (p.Trp151Ter) rs11555217
NM_001360.2(DHCR7):c.724C>T (p.Arg242Cys) rs80338856
NM_001360.2(DHCR7):c.964-1G>C rs138659167
NM_001360.2(DHCR7):c.976G>T (p.Val326Leu) rs80338859
NM_001369.2(DNAH5):c.1121T>C (p.Ile374Thr) rs147499872
NM_001369.2(DNAH5):c.2224C>T (p.Arg742Ter) rs776686983
NM_001376.5(DYNC1H1):c.1792C>T (p.Arg598Cys) rs587780564
NM_001399.4(EDA):c.181T>C (p.Tyr61His) rs132630308
NM_001458.4(FLNC):c.3557C>T (p.Ala1186Val) rs1114167361
NM_001692.3(ATP6V1B1):c.943C>T (p.Arg315Ter) rs145536062
NM_001791.3(CDC42):c.191A>G (p.Tyr64Cys) rs864309721
NM_001813.2(CENPE):c.2797G>A (p.Asp933Asn) rs144716013
NM_001848.2(COL6A1):c.202C>T (p.Arg68Cys) rs137964147
NM_001848.2(COL6A1):c.349G>A (p.Val117Met) rs150686304
NM_001918.3(DBT):c.670G>T (p.Glu224Ter) rs74103423
NM_001918.3(DBT):c.901C>T (p.Arg301Cys) rs185492864
NM_001953.4(TYMP):c.622G>A (p.Val208Met) rs121913039
NM_001958.3(EEF1A2):c.796C>T (p.Arg266Trp) rs1555883505
NM_001972.2(ELANE):c.416C>T (p.Pro139Leu) rs137854448
NM_002016.1(FLG):c.1501C>T (p.Arg501Ter) rs61816761
NM_002140.4(HNRNPK):c.257G>A (p.Arg86His) rs863223403
NM_002163.2(IRF8):c.602C>T (p.Ala201Val) rs144424711
NM_002180.2(IGHMBP2):c.1156T>C (p.Trp386Arg)
NM_002225.3(IVD):c.367G>A (p.Gly123Arg) rs142761835
NM_002225.4(IVD):c.149G>C (p.Arg50Pro) rs2229311
NM_002312.3(LIG4):c.2440C>T (p.Arg814Ter) rs104894419
NM_002317.6(LOX):c.893T>G (p.Met298Arg) rs876657852
NM_002335.2(LRP5):c.3107G>A (p.Arg1036Gln) rs61889560
NM_002386.3(MC1R):c.265G>C (p.Gly89Arg) rs34540312
NM_002435.1(MPI):c.656G>A (p.Arg219Gln) rs104894489
NM_002470.3(MYH3):c.700G>A (p.Ala234Thr) rs121913623
NM_002471.3(MYH6):c.4505G>A (p.Arg1502Gln) rs199936506
NM_002485.4(NBN):c.1030C>T rs767215758
NM_002485.4(NBN):c.1262T>C (p.Leu421Ser) rs104895032
NM_002485.4(NBN):c.1903A>T (p.Lys635Ter) rs587782545
NM_002485.4(NBN):c.1999T>C (p.Ser667Pro) rs587780091
NM_002485.4(NBN):c.2140C>T (p.Arg714Ter) rs730881864
NM_002485.4(NBN):c.425A>G (p.Asn142Ser) rs769414
NM_002485.4(NBN):c.595C>T (p.Pro199Ser) rs587780097
NM_002485.4(NBN):c.628G>T (p.Val210Phe) rs61754796
NM_002496.2(NDUFS8):c.236C>T (p.Pro79Leu) rs28939679
NM_002693.2(POLG):c.1174C>G (p.Leu392Val) rs145289229
NM_002693.2(POLG):c.1276G>A (p.Gly426Ser) rs775576189
NM_002693.2(POLG):c.1399G>A (p.Ala467Thr) rs113994095
NM_002693.2(POLG):c.1402A>G (p.Asn468Asp) rs145843073
NM_002693.2(POLG):c.2027C>T (p.Ala676Val) rs376306906
NM_002693.2(POLG):c.2207A>G (p.Asn736Ser) rs138457939
NM_002693.2(POLG):c.2542G>A (p.Gly848Ser) rs113994098
NM_002693.2(POLG):c.3286C>T (p.Arg1096Cys) rs201732356
NM_002693.2(POLG):c.32G>A rs765472726
NM_002693.2(POLG):c.3428A>G (p.Glu1143Gly) rs2307441
NM_002693.2(POLG):c.3667A>G (p.Ile1223Val) rs148786642
NM_002693.2(POLG):c.911T>G (p.Leu304Arg) rs121918044
NM_002769.4(PRSS1):c.86A>T (p.Asn29Ile) rs111033566
NM_002834.4(PTPN11):c.1403C>T (p.Thr468Met) rs121918457
NM_002834.4(PTPN11):c.1658C>T (p.Thr553Met) rs148176616
NM_002834.4(PTPN11):c.1678C>T (p.Leu560Phe) rs397516797
NM_002834.4(PTPN11):c.1682C>T (p.Pro561Leu) rs141140214
NM_002834.4(PTPN11):c.174C>G (p.Asn58Lys) rs397507506
NM_002834.4(PTPN11):c.853T>C (p.Phe285Leu) rs397507531
NM_002834.4(PTPN11):c.922A>G (p.Asn308Asp) rs28933386
NM_002878.3(RAD51D):c.451C>T (p.Gln151Ter) rs587781756
NM_002878.3(RAD51D):c.620C>T (p.Ser207Leu) rs370228071
NM_002878.3(RAD51D):c.715C>T (p.Arg239Trp) rs770250516
NM_002880.3(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_002880.3(RAF1):c.781C>G (p.Pro261Ala) rs121434594
NM_002880.3(RAF1):c.788T>A (p.Val263Asp) rs397516830
NM_002977.3(SCN9A):c.184A>G (p.Ile62Val) rs121908920
NM_002977.3(SCN9A):c.684C>G (p.Ile228Met) rs71428908
NM_003000.2(SDHB):c.137G>A (p.Arg46Gln) rs772551056
NM_003002.3(SDHD):c.242C>T (p.Pro81Leu) rs80338844
NM_003035.2(STIL):c.1136C>T (p.Ser379Phe) rs149185431
NM_003060.3(SLC22A5):c.136C>T (p.Pro46Ser) rs202088921
NM_003060.3(SLC22A5):c.248G>T (p.Arg83Leu) rs72552726
NM_003060.3(SLC22A5):c.695C>T (p.Thr232Met) rs114269482
NM_003119.2(SPG7):c.1529C>T rs61755320
NM_003119.3(SPG7):c.1045G>A (p.Gly349Ser) rs141659620
NM_003165.3(STXBP1):c.874C>T (p.Arg292Cys) rs786205598
NM_003235.5(TG):c.229G>A (p.Gly77Ser) rs142698837
NM_003242.5(TGFBR2):c.1483C>T (p.Arg495Ter) rs104893819
NM_003477.2(PDHX):c.44G>A (p.Arg15His) rs387906998
NM_003494.3(DYSF):c.1053+1G>A rs398123763
NM_003494.3(DYSF):c.1129C>T (p.Arg377Ter) rs758180890
NM_003494.3(DYSF):c.2643+1G>A rs140108514
NM_003494.3(DYSF):c.2974T>C (p.Trp992Arg) rs750028300
NM_003494.3(DYSF):c.3137G>A (p.Arg1046His) rs121908958
NM_003560.3(PLA2G6):c.2239C>T (p.Arg747Trp) rs121908687
NM_003560.3(PLA2G6):c.2370T>G (p.Tyr790Ter) rs121908680
NM_003673.3(TCAP):c.458G>A (p.Arg153His) rs149585781
NM_003742.4(ABCB11):c.1460G>A (p.Arg487His) rs188824058
NM_003742.4(ABCB11):c.2012-8T>G rs769910565
NM_003907.3(EIF2B5):c.1946T>C (p.Ile649Thr) rs1064794256
NM_004004.5(GJB2):c.131G>A (p.Trp44Ter) rs104894413
NM_004004.5(GJB2):c.1A>G (p.Met1Val) rs111033293
NM_004004.5(GJB2):c.231G>A (p.Trp77Ter) rs80338944
NM_004004.5(GJB2):c.269T>C (p.Leu90Pro) rs80338945
NM_004004.5(GJB2):c.283G>A (p.Val95Met) rs111033299
NM_004004.5(GJB2):c.379C>T (p.Arg127Cys) rs727503066
NM_004004.5(GJB2):c.416G>A (p.Ser139Asn) rs76434661
NM_004004.5(GJB2):c.551G>C (p.Arg184Pro) rs80338950
NM_004004.5(GJB2):c.94C>A (p.Arg32Ser) rs371024165
NM_004004.6(GJB2):c.-23+1G>A rs80338940
NM_004004.6(GJB2):c.109G>A (p.Val37Ile) rs72474224
NM_004004.6(GJB2):c.34G>T (p.Gly12Cys) rs104894408
NM_004004.6(GJB2):c.427C>T (p.Arg143Trp) rs80338948
NM_004006.2(DMD):c.10247G>A (p.Trp3416Ter) rs201217593
NM_004006.2(DMD):c.295A>G (p.Ile99Val) rs149428656
NM_004130.3(GYG1):c.304G>C (p.Asp102His) rs143137713
NM_004168.3(SDHA):c.1753C>T (p.Arg585Trp) rs200397144
NM_004168.3(SDHA):c.91C>T (p.Arg31Ter) rs142441643
NM_004183.3(BEST1):c.652C>T (p.Arg218Cys) rs281865238
NM_004252.4(SLC9A3R1):c.458G>A (p.Arg153Gln) rs41282065
NM_004278.3(PIGL):c.500T>C (p.Leu167Pro) rs145303331
NM_004281.3(BAG3):c.211C>T (p.Arg71Trp) rs387906874
NM_004281.3(BAG3):c.367C>T (p.Arg123Ter) rs387906875
NM_004321.7(KIF1A):c.760C>T (p.Arg254Trp) rs879253888
NM_004328.4(BCS1L):c.166C>T (p.Arg56Ter) rs121908576
NM_004329.2(BMPR1A):c.1433G>A (p.Arg478His) rs113849804
NM_004329.2(BMPR1A):c.760C>T (p.Arg254Cys) rs587782578
NM_004333.4(BRAF):c.1743T>A (p.Asn581Lys) rs397516895
NM_004333.4(BRAF):c.721A>C (p.Thr241Pro) rs387906661
NM_004333.4(BRAF):c.735A>C (p.Leu245Phe) rs397507466
NM_004333.5(BRAF):c.1914T>A (p.Asp638Glu) rs180177042
NM_004333.5(BRAF):c.722C>T (p.Thr241Met) rs387906660
NM_004366.5(CLCN2):c.704G>A (p.Arg235Gln) rs71318369
NM_004369.3(COL6A3):c.3040A>G (p.Lys1014Glu) rs114284669
NM_004380.2(CREBBP):c.1732C>T (p.Pro578Ser) rs148023511
NM_004415.2(DSP):c.699G>A (p.Trp233Ter) rs397516955
NM_004415.3(DSP):c.1696G>A (p.Ala566Thr) rs148147581
NM_004453.3(ETFDH):c.1001T>C (p.Leu334Pro) rs377686388
NM_004453.3(ETFDH):c.413T>G (p.Leu138Arg) rs779896449
NM_004519.3(KCNQ3):c.1885G>C (p.Val629Leu) rs185511111
NM_004519.3(KCNQ3):c.1994C>T (p.Ser665Leu) rs147173555
NM_004519.3(KCNQ3):c.688C>T (p.Arg230Cys) rs796052676
NM_004572.3(PKP2):c.1613G>A (p.Trp538Ter) rs193922672
NM_004572.3(PKP2):c.2146-1G>C rs193922674
NM_004572.3(PKP2):c.336+17T>G rs185681814
NM_004614.4(TK2):c.173A>G (p.Asn58Ser) rs138439950
NM_004614.4(TK2):c.416C>T (p.Ala139Val) rs281865494
NM_004629.1(FANCG):c.1480+1G>C rs149616199
NM_004646.3(NPHS1):c.1048T>C (p.Ser350Pro) rs386833863
NM_004646.3(NPHS1):c.1868G>T (p.Cys623Phe) rs386833895
NM_004933.2(CDH15):c.274C>T (p.Arg92Trp) rs121434540
NM_004937.2(CTNS):c.414G>A (p.Trp138Ter) rs113994205
NM_004937.2(CTNS):c.589G>A (p.Gly197Arg) rs113994207
NM_004960.3(FUS):c.1292C>T (p.Pro431Leu) rs186547381
NM_004972.3(JAK2):c.1849G>T (p.Val617Phe) rs77375493
NM_004975.2(KCNB1):c.1297C>T (p.Arg433Ter) rs1064794764
NM_004992.3(MECP2):c.1433G>A (p.Arg478Gln) rs145790362
NM_004992.3(MECP2):c.473C>T (p.Thr158Met) rs28934906
NM_004992.3(MECP2):c.763C>T (p.Arg255Ter) rs61749721
NM_005027.3(PIK3R2):c.1117G>A (p.Gly373Arg) rs587776934
NM_005045.3(RELN):c.139G>A (p.Glu47Lys) rs139648092
NM_005045.3(RELN):c.2015C>T (p.Pro672Leu) rs201044262
NM_005045.3(RELN):c.8843+3A>C rs200124755
NM_005055.4(RAPSN):c.133G>A (p.Val45Met) rs121909254
NM_005105.4(RBM8A):c.67+32G>C rs201779890
NM_005120.2(MED12):c.2881C>T (p.Arg961Trp) rs80338758
NM_005236.2(ERCC4):c.1765C>T (p.Arg589Trp) rs147105770
NM_005327.4(HADH):c.456G>T (p.Gln152His) rs1051519
NM_005343.2(HRAS):c.34G>T (p.Gly12Cys) rs104894229
NM_005343.2(HRAS):c.35G>C (p.Gly12Ala) rs104894230
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_005343.4(HRAS):c.520C>T (p.Pro174Ser) rs397517144
NM_005359.5(SMAD4):c.1082G>A (p.Arg361His) rs377767347
NM_005359.5(SMAD4):c.677C>T (p.Ala226Val) rs539739051
NM_005373.2(MPL):c.79+2T>A rs146249964
NM_005476.5(GNE):c.1571C>T (p.Ala524Val) rs764698870
NM_005476.5(GNE):c.1760T>C (p.Ile587Thr) rs748949603
NM_005476.5(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_005506.3(SCARB2):c.1010T>C (p.Met337Thr) rs147324129
NM_005529.6(HSPG2):c.11072C>T (p.Thr3691Ile) rs149159881
NM_005572.3(LMNA):c.1003C>T (p.Arg335Trp) rs386134243
NM_005591.3(MRE11):c.1480G>A (p.Glu494Lys) rs104895016
NM_005595.4(NFIA):c.70C>T (p.Arg24Ter) rs1064794841
NM_005609.3(PYGM):c.2392T>C (p.Trp798Arg) rs119103258
NM_005633.3(SOS1):c.1642A>C (p.Ser548Arg) rs397517149
NM_005709.3(USH1C):c.216G>A (p.Val72=) rs151045328
NM_005732.3(RAD50):c.1094G>A (p.Arg365Gln) rs146370443
NM_005732.3(RAD50):c.1336A>G (p.Lys446Glu) rs149217423
NM_005732.3(RAD50):c.2647C>T (p.Arg883Cys) rs138749920
NM_005982.3(SIX1):c.386A>G (p.Tyr129Cys) rs104894478
NM_006017.2(PROM1):c.604C>G (p.Arg202Gly) rs140872693
NM_006019.3(TCIRG1):c.117+4A>T rs751881962
NM_006019.3(TCIRG1):c.1213G>C (p.Gly405Arg) rs137853150
NM_006147.3(IRF6):c.16C>T (p.Arg6Cys) rs28942094
NM_006206.5(PDGFRA):c.1135T>G (p.Leu379Val) rs199827643
NM_006206.5(PDGFRA):c.1325T>C (p.Leu442Pro) rs139236922
NM_006214.3(PHYH):c.135-2A>G rs201578674
NM_006218.3(PIK3CA):c.3139C>T (p.His1047Tyr) rs121913281
NM_006231.3(POLE):c.1270C>G (p.Leu424Val) rs483352909
NM_006267.4(RANBP2):c.1754C>T (p.Thr585Met) rs121434502
NM_006393.2(NEBL):c.604G>A (p.Gly202Arg) rs137973321
NM_006415.3(SPTLC1):c.431T>A (p.Val144Asp) rs119482083
NM_006432.3(NPC2):c.58G>T (p.Glu20Ter) rs80358260
NM_006493.2(CLN5):c.595C>T (p.Arg199Ter) rs546989392
NM_006516.3(SLC2A1):c.1016T>C (p.Ile339Thr) rs141619735
NM_006516.3(SLC2A1):c.1372C>T (p.Arg458Trp) rs13306758
NM_006516.3(SLC2A1):c.997C>T (p.Arg333Trp) rs80359825
NM_006640.4(SEPTIN9):c.262C>T (p.Arg88Trp) rs80338761
NM_006662.2(SRCAP):c.7330C>T (p.Arg2444Ter) rs199469464
NM_006767.4(LZTR1):c.742G>A (p.Gly248Arg) rs869320686
NM_006772.2(SYNGAP1):c.2059C>T (p.Arg687Ter) rs1060503383
NM_006894.5(FMO3):c.458C>T (p.Pro153Leu) rs72549326
NM_006920.4(SCN1A):c.251A>G (p.Tyr84Cys) rs121917964
NM_006920.5(SCN1A):c.664C>T (p.Arg222Ter) rs121918624
NM_007103.3(NDUFV1):c.1162+4A>C rs199683937
NM_007103.3(NDUFV1):c.1268C>T (p.Thr423Met) rs121913659
NM_007171.3(POMT1):c.1565G>A (p.Arg522Lys) rs117985576
NM_007194.3(CHEK2):c.1100delC (p.Thr367Metfs) rs555607708
NM_007194.4(CHEK2):c.1215C>A (p.Asn405Lys) rs587780171
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His) rs139366548
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.1420C>T (p.Arg474Cys) rs540635787
NM_007194.4(CHEK2):c.1510G>C (p.Glu504Gln) rs587782489
NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser) rs587780179
NM_007194.4(CHEK2):c.1534C>G (p.Leu512Val) rs17882942
NM_007194.4(CHEK2):c.444+1G>A rs121908698
NM_007194.4(CHEK2):c.444+2T>C rs560596101
NM_007194.4(CHEK2):c.542G>A (p.Arg181His) rs121908701
NM_007194.4(CHEK2):c.556A>C (p.Asn186His) rs146198085
NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys) rs121908702
NM_007194.4(CHEK2):c.755G>A (p.Ser252Asn) rs587781379
NM_007254.3(PNKP):c.416G>A (p.Arg139His) rs34472250
NM_007294.3(BRCA1):c.110C>A (p.Thr37Lys) rs80356880
NM_007294.3(BRCA1):c.131G>T (p.Cys44Phe) rs80357446
NM_007294.3(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931
NM_007294.3(BRCA1):c.1648A>C (p.Asn550His) rs56012641
NM_007294.3(BRCA1):c.1846_1848delTCT (p.Ser616del) rs80358329
NM_007294.3(BRCA1):c.1971A>G (p.Gln657=) rs28897679
NM_007294.3(BRCA1):c.20G>A (p.Arg7His) rs144792613
NM_007294.3(BRCA1):c.2311T>C (p.Leu771=) rs16940
NM_007294.3(BRCA1):c.2315T>C (p.Val772Ala) rs80357467
NM_007294.3(BRCA1):c.2566T>C (p.Tyr856His) rs80356892
NM_007294.3(BRCA1):c.3113A>G (p.Glu1038Gly) rs16941
NM_007294.3(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852
NM_007294.3(BRCA1):c.3418A>G (p.Ser1140Gly) rs2227945
NM_007294.3(BRCA1):c.4096+3A>G rs80358015
NM_007294.3(BRCA1):c.446A>C (p.Glu149Ala) rs397507233
NM_007294.3(BRCA1):c.4485-1G>A rs80358189
NM_007294.3(BRCA1):c.4654T>C (p.Tyr1552His) rs1265352633
NM_007294.3(BRCA1):c.4675+1G>A rs80358044
NM_007294.3(BRCA1):c.4837A>G (p.Ser1613Gly) rs1799966
NM_007294.3(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967
NM_007294.3(BRCA1):c.4987-20A>G rs80358035
NM_007294.3(BRCA1):c.5062_5064delGTT (p.Val1688del) rs80358344
NM_007294.3(BRCA1):c.5068A>C (p.Lys1690Gln) rs397507239
NM_007294.3(BRCA1):c.5194-12G>A rs80358079
NM_007294.3(BRCA1):c.5310G>A (p.Gly1770=) rs273901761
NM_007294.3(BRCA1):c.5332+13G>T rs372391060
NM_007294.3(BRCA1):c.536A>G (p.Tyr179Cys) rs56187033
NM_007294.3(BRCA1):c.5406+8T>C rs55946644
NM_007294.3(BRCA1):c.811G>A (p.Val271Met) rs80357244
NM_007327.3(GRIN1):c.2530C>T (p.Arg844Cys) rs1554770667
NM_007373.3(SHOC2):c.4A>G (p.Ser2Gly) rs267607048
NM_012144.3(DNAI1):c.1644G>A (p.Trp548Ter) rs200669099
NM_012301.3(MAGI2):c.2131C>A (p.Pro711Thr) rs144078604
NM_012434.4(SLC17A5):c.115C>T (p.Arg39Cys) rs80338794
NM_012434.4(SLC17A5):c.406A>G (p.Lys136Glu) rs80338795
NM_012434.4(SLC17A5):c.899C>T (p.Ser300Phe) rs142553916
NM_013275.5(ANKRD11):c.1977C>G (p.Tyr659Ter) rs749201074
NM_013382.5(POMT2):c.1997A>G (p.Tyr666Cys) rs200198778
NM_014080.4(DUOX2):c.1921G>A (p.Glu641Lys) rs139161034
NM_014141.5(CNTNAP2):c.1145G>A (p.Ser382Asn) rs371839994
NM_014141.5(CNTNAP2):c.2123T>C (p.Val708Ala) rs148453565
NM_014141.5(CNTNAP2):c.341G>A (p.Arg114Gln) rs189731792
NM_014225.5(PPP2R1A):c.544C>T (p.Arg182Trp) rs786205227
NM_014249.3(NR2E3):c.932G>A (p.Arg311Gln) rs28937873
NM_014270.4(SLC7A9):c.544G>A (p.Ala182Thr) rs79389353
NM_014324.5(AMACR):c.844G>C (p.Glu282Gln) rs181341030
NM_014363.5(SACS):c.4744G>A (p.Asp1582Asn) rs1160357920
NM_014625.3(NPHS2):c.868G>A (p.Val290Met) rs200482683
NM_014625.3(NPHS2):c.871C>T (p.Arg291Trp) rs74315348
NM_014795.3(ZEB2):c.2084G>A (p.Arg695Gln) rs147693839
NM_014845.5(FIG4):c.737G>A (p.Trp246Ter) rs776005417
NM_014874.3(MFN2):c.2119C>T (p.Arg707Trp) rs119103267
NM_014946.3(SPAST):c.1685G>A (p.Arg562Gln) rs863224923
NM_014985.3(CEP152):c.2034T>G (p.Tyr678Ter) rs182018947
NM_014985.3(CEP152):c.794A>C (p.Gln265Pro) rs267606717
NM_015093.5(TAB2):c.679C>T (p.Arg227Ter)
NM_015120.4(ALMS1):c.358C>T (p.Gln120Ter) rs751804613
NM_015272.2(RPGRIP1L):c.2614C>T (p.Gln872Ter) rs121918203
NM_015339.4(ADNP):c.2188C>T (p.Arg730Ter) rs886041116
NM_015346.3(ZFYVE26):c.3139+1G>A rs137907310
NM_015506.2(MMACHC):c.440G>C (p.Gly147Ala) rs140522266
NM_016038.2(SBDS):c.258+2T>C rs113993993
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948
NM_016111.3(TELO2):c.1100G>T (p.Cys367Phe) rs202020308
NM_016219.4(MAN1B1):c.1742G>A (p.Gly581Asp) rs376968555
NM_016219.4(MAN1B1):c.2020G>A (p.Asp674Asn) rs181795958
NM_016327.2(UPB1):c.105-2A>G rs138081800
NM_016346.3(NR2E3):c.119-2A>C rs2723341
NM_016373.3(WWOX):c.990C>G (p.Asn330Lys) rs117209694
NM_016599.4(MYOZ2):c.488T>C (p.Leu163Ser) rs143345726
NM_017739.3(POMGNT1):c.1469G>A (p.Cys490Tyr) rs267606960
NM_017739.3(POMGNT1):c.1539+1G>A rs138642840
NM_017780.3(CHD7):c.3398C>T (p.Thr1133Met) rs1064793083
NM_017837.3(PIGV):c.1022C>A (p.Ala341Glu) rs139073416
NM_017882.2(CLN6):c.53C>T (p.Ala18Val) rs547125345
NM_017882.2(CLN6):c.923G>C (p.Ser308Thr) rs143578698
NM_017890.4(VPS13B):c.1832G>A (p.Arg611Lys) rs61754109
NM_017890.4(VPS13B):c.5681C>T (p.Thr1894Met) rs117148013
NM_017890.4(VPS13B):c.5682G>A (p.Thr1894=) rs368851580
NM_017890.4(VPS13B):c.6491A>G (p.Asn2164Ser) rs142248228
NM_017890.4(VPS13B):c.6732+1G>A rs180177366
NM_017890.4(VPS13B):c.7322+2T>C
NM_017890.4(VPS13B):c.8645C>T (p.Pro2882Leu) rs145890213
NM_017890.4(VPS13B):c.9667C>T (p.Arg3223Trp) rs149842139
NM_018026.3(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_018082.5(POLR3B):c.1244T>C (p.Met415Thr) rs199504211
NM_018082.5(POLR3B):c.1568T>A rs138249161
NM_018136.4(ASPM):c.5947A>T (p.Met1983Leu) rs141715950
NM_018297.3(NGLY1):c.1150-1G>C rs532007026
NM_018328.4(MBD5):c.236G>A (p.Gly79Glu) rs34995577
NM_018451.3(CENPJ):c.2872C>T (p.Arg958Ter) rs749343808
NM_018451.4(CENPJ):c.1586C>G (p.Ser529Ter) rs202058504
NM_018684.3(ZC4H2):c.199C>T (p.Arg67Ter) rs1131691616
NM_018941.3(CLN8):c.610C>T (p.Arg204Cys) rs104894060
NM_018941.3(CLN8):c.806A>T (p.Glu269Val) rs139003032
NM_018972.3(GDAP1):c.487C>T (p.Gln163Ter) rs104894077
NM_019056.6(NDUFB11):c.262C>T (p.Arg88Ter) rs786205225
NM_019066.4(MAGEL2):c.1912C>T (p.Gln638Ter) rs797044883
NM_019066.4(MAGEL2):c.3017C>G (p.Thr1006Ser) rs138628273
NM_019109.4(ALG1):c.773C>T (p.Ser258Leu) rs28939378
NM_020166.4(MCCC1):c.974T>G (p.Met325Arg) rs119103212
NM_020312.4(COQ9):c.362T>C (p.Ile121Thr) rs547254482
NM_020320.3(RARS2):c.1679G>A (p.Arg560His) rs756502974
NM_020320.3(RARS2):c.442A>G (p.Thr148Ala) rs143389605
NM_020433.4(JPH2):c.661T>C (p.Phe221Leu) rs558770240
NM_020630.4(RET):c.2982A>C (p.Lys994Asn) rs199718928
NM_020630.5(RET):c.2611G>A (p.Val871Ile) rs145170911
NM_020631.4(PLEKHG5):c.440-2A>G rs144750655
NM_020732.3(ARID1B):c.1762G>T (p.Glu588Ter) rs201653711
NM_020751.2(COG6):c.1535T>G (p.Leu512Ter) rs1292534396
NM_020975.4(RET):c.1947G>A (p.Ser649=) rs377767412
NM_020975.4(RET):c.2410G>A (p.Val804Met) rs79658334
NM_020975.4(RET):c.938G>A (p.Arg313Gln) rs77702891
NM_020988.2(GNAO1):c.680C>T (p.Ala227Val) rs797045599
NM_020988.2(GNAO1):c.709G>A (p.Glu237Lys) rs1064794533
NM_021007.2(SCN2A):c.2558G>A (p.Arg853Gln) rs794727152
NM_021007.2(SCN2A):c.3457G>A (p.Glu1153Lys) rs200138205
NM_021625.4(TRPV4):c.806G>A (p.Arg269His) rs267607144
NM_021942.5(TRAPPC11):c.1287+5G>A rs397509418
NM_021957.3(GYS2):c.574C>T (p.Arg192Ter) rs150382575
NM_021957.4(GYS2):c.736C>T (p.Arg246Ter) rs121918419
NM_022041.3(GAN):c.851+1G>A rs747291494
NM_022124.5(CDH23):c.2263C>T (p.His755Tyr) rs181255269
NM_022132.4(MCCC2):c.1433C>G (p.Ala478Gly) rs35068278
NM_022162.2(NOD2):c.2863G>A (p.Val955Ile) rs5743291
NM_022168.4(IFIH1):c.2336G>A (p.Arg779His) rs587777446
NM_022787.3(NMNAT1):c.769G>A (p.Glu257Lys) rs150726175
NM_022970.3(FGFR2):c.755C>G (p.Ser252Trp) rs79184941
NM_023073.3(CPLANE1):c.7400+1G>A rs367543062
NM_023073.3(CPLANE1):c.7477C>T (p.Arg2493Ter) rs139675596
NM_023110.2(FGFR1):c.1097C>T (p.Pro366Leu) rs121909641
NM_023110.2(FGFR1):c.899T>C (p.Ile300Thr) rs121909633
NM_024022.2(TMPRSS3):c.325C>T (p.Arg109Trp) rs201632198
NM_024301.4(FKRP):c.1343C>T (p.Pro448Leu) rs104894681
NM_024301.4(FKRP):c.545A>G (p.Tyr182Cys) rs543163491
NM_024312.4(GNPTAB):c.1090C>T (p.Arg364Ter) rs200646278
NM_024312.4(GNPTAB):c.1514G>A (p.Cys505Tyr) rs281864980
NM_024312.4(GNPTAB):c.2715+2T>G rs281865001
NM_024422.4(DSC2):c.2498G>A (p.Arg833His) rs370325533
NM_024570.3(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679
NM_024577.3(SH3TC2):c.2860C>T (p.Arg954Ter) rs80338933
NM_024596.4(MCPH1):c.1625T>G (p.Leu542Ter)
NM_024649.4(BBS1):c.1169T>G (p.Met390Arg) rs113624356
NM_024649.4(BBS1):c.724-1G>C rs748523268
NM_024675.3(PALB2):c.11C>T (p.Pro4Leu) rs45619737
NM_024675.3(PALB2):c.1756G>A (p.Asp586Asn) rs587781954
NM_024675.3(PALB2):c.2773G>C (p.Val925Leu) rs180177125
NM_024675.3(PALB2):c.2834+1G>T rs587776419
NM_024675.3(PALB2):c.2897T>C (p.Ile966Thr) rs587780214
NM_024675.3(PALB2):c.3251C>T (p.Ser1084Leu) rs62625271
NM_024675.3(PALB2):c.3428T>A (p.Leu1143His) rs62625284
NM_024685.4(BBS10):c.164T>C (p.Leu55Pro) rs1460517643
NM_024685.4(BBS10):c.850C>T (p.Gln284Ter) rs758732081
NM_024996.5(GFM1):c.2011C>T (p.Arg671Cys) rs201408725
NM_025114.3(CEP290):c.1429C>T (p.Arg477Ter) rs1170451277
NM_025114.3(CEP290):c.2991+1655A>G rs281865192
NM_025114.3(CEP290):c.4437+1G>A rs760915898
NM_025216.2(WNT10A):c.382C>T (p.Arg128Ter) rs762739726
NM_030662.3(MAP2K2):c.1187C>T (p.Thr396Met) rs117945277
NM_030662.3(MAP2K2):c.400T>C (p.Tyr134His) rs121434499
NM_030665.3(RAI1):c.3589G>C (p.Gly1197Arg)
NM_030777.3(SLC2A10):c.394C>T (p.Arg132Trp) rs121908173
NM_031407.6(HUWE1):c.9208C>T (p.Arg3070Cys) rs886041876
NM_031885.3(BBS2):c.1237C>T (p.Arg413Ter) rs147030232
NM_031885.3(BBS2):c.311A>C (p.Asp104Ala) rs121908179
NM_031885.3(BBS2):c.534+1G>T rs773862084
NM_031885.3(BBS2):c.72C>G (p.Tyr24Ter) rs121908175
NM_032043.2(BRIP1):c.1240C>T (p.Gln414Ter) rs368796923
NM_032043.2(BRIP1):c.139C>G (p.Pro47Ala) rs28903098
NM_032043.2(BRIP1):c.1619A>T (p.Gln540Leu) rs4988349
NM_032043.2(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986
NM_032043.2(BRIP1):c.3149C>A (p.Thr1050Asn) rs373040333
NM_032043.2(BRIP1):c.380-5A>G rs587782131
NM_032119.3(ADGRV1):c.6901C>T (p.Gln2301Ter) rs121909762
NM_032193.3(RNASEH2C):c.205C>T (p.Arg69Trp) rs78635798
NM_032578.3(MYPN):c.3169C>T (p.Arg1057Ter) rs1057519572
NM_032645.4(RAPSN):c.264C>A (p.Asn88Lys) rs104894299
NM_032682.5(FOXP1):c.1541G>A (p.Arg514His) rs797045586
NM_033056.3(PCDH15):c.3316C>T (p.Arg1106Ter) rs202033121
NM_033056.3(PCDH15):c.733C>T (p.Arg245Ter) rs111033260
NM_033305.2(VPS13A):c.5884C>T (p.Arg1962Cys) rs149694033
NM_033305.2(VPS13A):c.775A>G (p.Asn259Asp) rs41307461
NM_033629.5(TREX1):c.218C>T (p.Pro73Leu) rs755919767
NM_058216.2(RAD51C):c.404+2T>C rs730881931
NM_058216.2(RAD51C):c.706-2A>G rs587780259
NM_080680.2(COL11A2):c.4040C>A (p.Pro1347Gln) rs142890313
NM_138413.3(HOGA1):c.208C>T (p.Arg70Ter) rs758304537
NM_138694.3(PKHD1):c.10031T>G (p.Leu3344Ter) rs398124475
NM_138694.3(PKHD1):c.10036T>C (p.Cys3346Arg) rs149798764
NM_138694.3(PKHD1):c.107C>T (p.Thr36Met) rs137852944
NM_138694.3(PKHD1):c.2264C>T (p.Pro755Leu) rs1057517158
NM_138694.3(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019
NM_138694.3(PKHD1):c.9530T>C (p.Ile3177Thr) rs200511261
NM_139058.2(ARX):c.1170C>T (p.Gly390=) rs761632870
NM_139242.3(MTFMT):c.626C>T (p.Ser209Leu) rs201431517
NM_139343.2(BIN1):c.696C>A (p.Asn232Lys) rs143820618
NM_144577.3(CCDC114):c.1391+5G>A rs201133219
NM_144612.6(LOXHD1):c.4480C>T rs201587138
NM_144612.6(LOXHD1):c.4714C>T rs75949023
NM_144997.5(FLCN):c.779+1G>T rs758175953
NM_145038.4(DRC1):c.352C>T (p.Gln118Ter) rs142371860
NM_147127.4(EVC2):c.2263C>T (p.Gln755Ter) rs751356206
NM_152296.3(ATP1A3):c.2767G>A (p.Asp923Asn) rs267606670
NM_152419.2(HGSNAT):c.1411G>A (p.Glu471Lys) rs753355844
NM_152419.2(HGSNAT):c.848C>T (p.Pro283Leu) rs121908282
NM_152618.2(BBS12):c.1949C>G (p.Ser650Ter) rs1553941580
NM_152618.2(BBS12):c.2023C>T (p.Arg675Ter) rs752202089
NM_152778.2(MFSD8):c.1444C>T (p.Arg482Ter) rs724159971
NM_152778.2(MFSD8):c.677T>C (p.Ile226Thr) rs200591471
NM_153026.2(PRICKLE1):c.824C>T (p.Thr275Met) rs559947948
NM_153700.2(STRC):c.4219-1G>A rs748854592
NM_153704.5(TMEM67):c.1046T>C (p.Leu349Ser) rs386834180
NM_153704.5(TMEM67):c.1115C>A (p.Thr372Lys) rs863225235
NM_153704.5(TMEM67):c.1321C>T (p.Arg441Cys) rs752362727
NM_153704.5(TMEM67):c.1843T>C (p.Cys615Arg) rs201893408
NM_172107.3(KCNQ2):c.1627G>A (p.Val543Met) rs794727134
NM_172107.3(KCNQ2):c.365C>T (p.Ser122Leu) rs118192194
NM_172107.3(KCNQ2):c.638G>A (p.Arg213Gln) rs397514581
NM_172107.3(KCNQ2):c.917C>T (p.Ala306Val) rs864321707
NM_173076.2(ABCA12):c.4139A>G (p.Asn1380Ser) rs28940269
NM_173354.4(SIK1):c.2243G>A (p.Arg748His) rs375516507
NM_174917.4(ACSF3):c.1405C>T (p.Arg469Ter)
NM_177550.4(SLC13A5):c.655G>A (p.Gly219Arg) rs144332569
NM_183050.2(BCKDHB):c.548G>C (p.Arg183Pro) rs79761867
NM_183050.3(BCKDHB):c.832G>A (p.Gly278Ser) rs386834233
NM_198053.2(CD247):c.301C>T (p.Gln101Ter) rs55729925
NM_198056.2(SCN5A):c.1099C>T (p.Arg367Cys) rs199473097
NM_198056.2(SCN5A):c.5872C>T (p.Arg1958Ter) rs757532106
NM_198253.2(TERT):c.508G>A (p.Val170Met) rs387907248
NM_198578.3(LRRK2):c.6055G>A (p.Gly2019Ser) rs34637584
NM_199165.2(ADSSL1):c.910G>A (p.Asp304Asn) rs140614802
NM_199292.2(TH):c.698G>A (p.Arg233His) rs80338892
NM_201253.2(CRB1):c.2843G>A (p.Cys948Tyr) rs62645748
NM_206933.2(USH2A):c.10073G>A (p.Cys3358Tyr) rs148660051
NM_206933.2(USH2A):c.13316C>T (p.Thr4439Ile) rs753330544
NM_206933.2(USH2A):c.2167+5G>A rs771583281
NM_206933.2(USH2A):c.2168-2A>G rs993185407
NM_206933.2(USH2A):c.6670G>T (p.Gly2224Cys) rs149553844
NM_206933.2(USH2A):c.6967C>T (p.Arg2323Ter) rs1485173724
NM_207122.1(EXT2):c.1393C>T (p.Arg465Ter)
NM_207346.2(TSEN54):c.919G>T (p.Ala307Ser) rs113994152
NM_213599.2(ANO5):c.1295C>G (p.Ala432Gly) rs137854524
NM_213599.2(ANO5):c.692G>T (p.Gly231Val) rs137854523
NM_213607.2(CCDC103):c.461A>C (p.His154Pro) rs145457535
NR_003051.3(RMRP):n.64C>T rs786204684
RMRP:n.71A>G rs199476103

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