ClinVar Miner

Variants from Baylor Genetics with conflicting interpretations

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

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

Variants with only 1 submission 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
8679 1735 112 629 306 11 369 1314

Significance breakdown #

In the table below, cells that correspond to a term paired with itself represent synonymous conflicts, i.e. variants that have been annotated with different terms that map to the same standard term. To compare the terms that were actually submitted, check the box in the filters section at the top of this page.

All submitters
Baylor Genetics pathogenic likely pathogenic uncertain significance likely benign benign affects association drug response protective risk factor other
pathogenic 111 481 119 15 9 0 1 1 1 4 3
likely pathogenic 145 0 87 3 3 0 0 1 1 0 1
uncertain significance 103 65 1 236 86 1 0 0 0 3 0
likely benign 0 0 1 0 4 0 0 0 0 0 0
benign 1 0 0 1 0 0 0 0 0 0 0

Submitter to submitter summary #

Total submitters: 176
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 1166 0 99 212 2 96 408
Counsyl 0 169 0 207 6 0 53 266
Illumina Clinical Services Laboratory,Illumina 0 484 0 20 80 0 63 163
GeneReviews 0 119 112 9 1 0 16 138
OMIM 0 523 0 52 0 4 66 122
Natera, Inc. 0 257 0 16 10 0 18 44
Mendelics 0 93 0 11 10 0 21 42
Integrated Genetics/Laboratory Corporation of America 0 289 0 36 1 0 4 41
Biochemical Molecular Genetic Laboratory,King Abdulaziz Medical City 0 84 0 24 0 0 9 33
Myriad Women's Health, Inc. 0 125 0 32 0 0 0 32
Fulgent Genetics,Fulgent Genetics 0 199 0 25 0 0 4 29
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 45 0 15 1 0 11 27
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 52 0 16 5 0 6 27
SIB Swiss Institute of Bioinformatics 0 17 0 17 1 0 6 24
Genetic Services Laboratory, University of Chicago 0 89 0 17 0 1 2 20
Institute of Human Genetics, University of Leipzig Medical Center 0 62 0 6 3 0 11 20
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 4 0 8 0 0 7 15
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 19 0 11 0 0 3 14
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 32 0 8 0 0 4 12
Juha Muilu Group; Institute for Molecular Medicine Finland (FIMM) 0 0 0 10 0 0 2 12
Broad Institute Rare Disease Group, Broad Institute 0 39 0 3 1 0 8 12
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 74 0 7 0 2 1 10
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 28 0 9 0 0 2 10
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 51 0 6 1 0 2 9
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 17 0 3 4 0 2 9
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 9 0 6 0 0 3 8
Wong Mito Lab, Molecular and Human Genetics, Baylor College of Medicine 0 21 0 3 1 0 4 8
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 13 0 3 0 0 5 8
UCLA Clinical Genomics Center, UCLA 0 7 0 4 0 0 3 7
Pathology and Clinical Laboratory Medicine,King Fahad Medical City 0 21 0 6 0 0 1 7
Molecular Biology Laboratory, Fundació Puigvert 0 7 0 6 0 0 1 7
Institute of Human Genetics, Klinikum rechts der Isar 0 65 0 3 0 0 3 6
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 28 0 5 0 0 2 6
UNC Molecular Genetics Laboratory,University of North Carolina at Chapel Hill 0 18 0 4 0 0 2 6
Johns Hopkins Genomics, Johns Hopkins University 0 11 0 4 2 0 0 6
Mayo Clinic Laboratories, Mayo Clinic 0 14 0 3 0 0 3 5
NeuroMeGen,Hospital Clinico Santiago de Compostela 0 0 0 4 0 0 1 5
Undiagnosed Diseases Network,NIH 0 22 0 3 0 0 3 5
ClinGen PAH Variant Curation Expert Panel 0 21 0 5 0 0 0 5
New York Genome Center 0 5 0 3 0 0 2 5
ClinVar Staff, National Center for Biotechnology Information (NCBI) 0 3 0 2 0 0 2 4
Developmental Genetics Unit,King Faisal Specialist Hospital & Research Centre 0 1 0 3 0 0 1 4
NIHR Bioresource Rare Diseases, University of Cambridge 0 3 0 4 0 0 1 4
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 23 0 1 3 0 0 4
Reproductive Health Research and Development,BGI Genomics 0 17 0 2 0 0 2 4
GeneDx 0 11 0 2 0 0 2 3
Elsea Laboratory,Baylor College of Medicine 0 11 0 1 0 0 2 3
Centogene AG - the Rare Disease Company 0 21 0 3 0 0 0 3
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 24 0 2 0 0 1 3
Center for Medical Genetics Ghent,University of Ghent 0 4 0 1 1 0 1 3
Service de Génétique Moléculaire,Hôpital Robert Debré 0 7 0 2 1 0 0 3
Division of Human Genetics,Children's Hospital of Philadelphia 0 23 0 3 0 0 0 3
Hadassah Hebrew University Medical Center 0 1 0 3 0 0 0 3
Center of Genomic medicine, Geneva,University Hospital of Geneva 0 9 0 2 0 1 0 3
Research and Development, ARUP Laboratories 0 25 0 3 0 0 0 3
Medgenome Labs Pvt Ltd 0 0 0 2 0 0 1 3
Sharon lab,Hadassah-Hebrew University Medical Center 0 6 0 2 0 0 1 3
Leiden Open Variation Database 0 16 0 2 0 0 1 3
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 10 0 2 0 0 1 3
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 10 0 2 0 0 1 3
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 6 0 2 0 0 1 3
Nilou-Genome Lab 0 3 0 2 0 0 1 3
GenomeConnect - Simons Searchlight 0 6 0 2 0 0 1 3
Baylor Genetics 11713 13 0 2 0 0 0 2
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 3 0 2 0 0 0 2
Clinical Biochemistry Laboratory,Health Services Laboratory 0 5 0 2 0 0 0 2
Institute of Human Genetics,Cologne University 0 5 0 1 0 0 1 2
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 19 0 2 0 0 0 2
Centre for Inherited Metabolic Diseases, Karolinska University Hospital 0 10 0 1 0 0 1 2
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics 0 0 0 1 0 1 2 2
Blueprint Genetics 0 11 0 1 0 0 1 2
PXE International 0 1 0 2 0 0 0 2
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 0 0 0 2 0 0 2
CHU Sainte-Justine Research Center,University of Montreal 0 2 0 0 0 0 2 2
University of Washington Center for Mendelian Genomics, University of Washington 0 0 0 1 0 0 1 2
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 9 0 2 0 0 0 2
Center for Human Genetics,University of Leuven 0 0 0 2 0 0 0 2
Bioscientia Institut fuer Medizinische Diagnostik GmbH,Sonic Healthcare 0 16 0 1 0 0 1 2
CeGaT Praxis fuer Humangenetik Tuebingen 0 2 0 2 0 0 1 2
Daryl Scott Lab,Baylor College of Medicine 0 8 0 2 0 0 0 2
The Molecular Genetic Diagnosis Center, Children’s Hospital of Fudan University 0 3 0 1 0 0 1 2
Laboratory of Diagnosis and Therapy of Lysosomal Disorders,University of Padova 0 2 0 2 0 0 0 2
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 9 0 1 1 0 0 2
SingHealth Duke-NUS Institute of Precision Medicine 0 5 0 2 0 0 0 2
Ocular Genomics Institute, Massachusetts Eye and Ear 0 4 0 1 0 0 1 2
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota 0 7 0 2 0 0 0 2
Laboratory of Medical Genetics, National & Kapodistrian University of Athens 0 2 0 2 0 0 0 2
Genomic Medicine Lab, University of California San Francisco 0 10 0 1 0 0 1 2
Genetics and Prenatal Diagnosis Center,The First Affiliated Hospital of Zhengzhou University 0 1 0 2 0 0 0 2
Laboratory of Molecular Genetics,Children's Memorial Health Institute 0 4 0 2 0 0 0 2
ATS em Genética Clínica,Universidade Federal do Rio Grande do Sul 0 4 0 2 0 0 0 2
Athena Diagnostics Inc 0 6 0 0 0 0 1 1
Center for Human Genetics, Inc,Center for Human Genetics, Inc 0 17 0 0 0 0 1 1
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 10 0 0 0 0 1 1
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 1 0 0 0 0 1 1
Claritas Genomics 0 2 0 1 0 0 0 1
Institute for Human Genetics,University Clinic Freiburg 0 4 0 0 0 0 1 1
PreventionGenetics, PreventionGenetics 0 2 0 1 0 0 0 1
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 9 0 1 0 0 0 1
Institute of Medical Molecular Genetics, University of Zurich 0 1 0 1 0 0 0 1
Sharing Clinical Reports Project (SCRP) 0 5 0 0 1 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 8 0 0 1 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 5 0 0 0 0 1 1
LDLR-LOVD, British Heart Foundation 0 0 0 1 0 0 0 1
RettBASE 0 4 0 0 0 0 1 1
Department of Psychiatry,Nagoya University 0 0 0 1 0 0 0 1
UF de Génétique Moléculaire,Hôpital Lariboisière 0 0 0 1 0 0 0 1
Shaikh Laboratory, University of Colorado 0 0 0 1 0 0 0 1
CSER _CC_NCGL, University of Washington 0 5 0 0 1 0 0 1
Institute for Integrative and Experimental Genomics,University of Luebeck 0 0 0 0 0 0 1 1
Vavilov Institute of General Genetics RAS, Laboratory of Evolutional Genomics 0 0 0 0 0 1 0 1
Pediatric Department, Peking University First Hospital 0 1 0 1 0 0 0 1
Lyon Laboratory, Cold Spring Harbor Laboratory 0 0 0 0 0 0 1 1
Scripps Translational Science Institute,Scripps Health and The Scripps Research Institute 0 0 0 0 0 0 1 1
Genome Sciences Centre,British Columbia Cancer Agency 0 0 0 1 0 0 0 1
Medical Genetics, University of Parma 0 2 0 0 0 0 1 1
Diagnostics Division,Centre for DNA Fingerprinting and Diagnostics 0 0 0 1 0 0 0 1
Prenatal Medicine Munich,Prenatal Medicine Munich 0 0 0 0 0 0 1 1
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 0 0 0 1 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 0 1 0 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 0 0 1 1
Department of Prenatal Diagnosis, Women’s Hospital of Nanjing Medical University, Nanjing Maternity and Child Health Care Hospital 0 0 0 1 0 0 0 1
Hereditary Research Laboratory, Bethlehem University 0 2 0 0 0 0 1 1
Institute of Human Genetics, Univ. Regensburg,Univ. Regensburg 0 2 0 1 0 0 0 1
Color Health, Inc 0 1 0 1 0 0 0 1
Donald Williams Parsons Laboratory,Baylor College of Medicine 0 2 0 1 0 0 0 1
Neurology Department,Peking University First Hospital 0 4 0 0 0 0 1 1
Pediatric Highly Intensive Care Unit,Fondazione IRCCS Ca' Granda Ospedale Maggiore Policlinico 0 0 0 1 0 0 0 1
Robarts Research Institute,Western University 0 0 0 1 0 0 0 1
Neurogenetics Laboratory - MEYER,AOU Meyer 0 1 0 1 0 0 0 1
Muenke lab,National Institutes of Health 0 0 0 0 0 0 1 1
Department of Pathology and Laboratory Medicine,Sinai Health System 0 4 0 1 0 0 1 1
RBHT Clinical Genetics and Genomics Laboratory,Royal Brompton and Harefield NHS Foundation Trust 0 0 0 1 0 0 0 1
Geisinger Autism and Developmental Medicine Institute,Geisinger Health System 0 2 0 1 0 0 1 1
Rare Disease Group, Clinical Genetics,Karolinska Institutet 0 0 0 1 0 0 1 1
Institute of Cellular and Molecular Medicine,Copenhagen University 0 0 0 1 0 0 0 1
Flegel Lab,National Institutes of Health 0 0 0 1 0 0 0 1
Pele Pequeno Principe Research Institute, Faculdades Pequeno Principe 0 0 0 0 0 0 1 1
Unidade de Bioquimica Genetica,Centro Hospitalar do Porto 0 0 0 1 0 0 0 1
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 1 0 0 0 0 1 1
ClinGen RASopathy Variant Curation Expert Panel 0 17 0 0 0 0 1 1
Schule lab,Hertie Institute for Clinical Brain Research 0 0 0 0 0 0 1 1
Laboratoire de Genetique Moleculaire,Centre Hospitalier Universitaire de Bordeaux 0 0 0 0 0 0 1 1
Medical Genetics Lab,Policlinico S. Orsola.Malpighi 0 0 0 1 0 0 1 1
Medical Cytogenetics and Molecular Genetics Laboratory,IRCCS Istituto Auxologico Italiano 0 0 0 0 0 0 1 1
St. Jude Clinical Genomics Lab, St. Jude Children's Research Hospital 0 0 0 0 1 0 0 1
Kids Research, The Children's Hospital at Westmead 0 1 0 1 0 0 0 1
Uitto Lab,Thomas Jefferson University 0 0 0 0 0 0 1 1
Michaelson Lab,University of Iowa 0 0 0 0 0 0 1 1
Molecular Pathology Diagnostics Labratory,University of Iowa Hospitals & Clinics 0 0 0 1 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 0 0 0 1 0 0 1
Laboratory of Genetics and Genomics,Institute for Developing Science and Health Initiatives Foundation 0 0 0 1 0 0 0 1
Wessex Regional Genetics Laboratory,Salisbury District Hospital 0 2 0 1 0 0 0 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 1 0 1 0 0 0 1
Biochemistry Laboratory of CDMU,Chengde Medical University 0 4 0 1 0 0 0 1
Genetic Testing Center for Deafness, Department of Otolaryngology Head & Neck Surgery,Institute of Otolaryngology, Chinese PLA General Hospital 0 4 0 1 0 0 0 1
Medical Affairs,Enzyvant 0 0 0 0 0 0 1 1
Institute for Human Genetics, University Hospital Essen 0 0 0 1 0 0 0 1
Molecular Pathology and Genetics,King Abdulaziz Medical City, Ministry of National Guard - Health Affairs 0 0 0 1 0 0 0 1
UT Southwestern Medical Center, UT Southwestern Medical Center 0 0 0 0 0 1 0 1
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute,Kanazawa Medical University 0 1 0 0 1 0 0 1
Clinical Genomics Program, Stanford Medicine 0 5 0 1 0 0 0 1
Central Laboratory,The First Hospital of Lanzhou University 0 0 0 1 0 0 0 1
Laboratory of Genetics in Ophthalmology,Institut Imagine 0 1 0 1 0 0 0 1
Suna and Inan Kirac Foundation Neurodegeneration Research Laboratory, Koc University 0 0 0 1 0 0 0 1
Children’s Center Hospital,Tehran University of Medical Sciences 0 0 0 0 0 1 0 1
ClinGen Platelet Disorders Variant Curation Expert Panel,ClinGen 0 0 0 0 0 0 1 1
Pars Genome Lab 0 4 0 0 1 0 0 1
Sydney Genome Diagnostics,Children's Hospital Westmead 0 4 0 1 0 0 0 1
Pediatrics, MediClubGeorgia 0 1 0 1 0 0 0 1
Paris Brain Institute,Inserm - ICM 0 8 0 0 0 0 1 1
Dept. Genetics and Cancer, Menzies Institute for Medical Research,University of Tasmania 0 0 0 0 0 0 1 1
Department of Medical Laboratory Science, Faculty of Allied Health Sciences,University of Peradeniya 0 0 0 0 0 0 1 1
Neurogenetic Laboratory,Second Faculty of Medicine, Charles University 0 1 0 1 0 0 0 1
Wilkie Group, Clinical Genetics Lab, WIMM,University of Oxford 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 1314
Download table as spreadsheet
HGVS dbSNP
NM_000016.5(ACADM):c.1221_1222del (p.Arg408fs) rs875989860
NM_000016.5(ACADM):c.287-2A>G rs1057518677
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234
NM_000018.4(ACADVL):c.1313G>A (p.Gly438Glu) rs748450834
NM_000018.4(ACADVL):c.1591C>T (p.Arg531Trp) rs146379816
NM_000018.4(ACADVL):c.1678+23C>T rs147546456
NM_000018.4(ACADVL):c.1700G>A (p.Arg567Gln) rs398123084
NM_000018.4(ACADVL):c.1844G>A (p.Arg615Gln) rs148584617
NM_000018.4(ACADVL):c.1894C>T (p.Arg632Cys) rs151254520
NM_000018.4(ACADVL):c.520G>A (p.Val174Met) rs369560930
NM_000018.4(ACADVL):c.779C>T (p.Thr260Met) rs113994168
NM_000018.4(ACADVL):c.865G>A (p.Gly289Arg) rs200788251
NM_000023.4(SGCA):c.739G>A (p.Val247Met) rs143570936
NM_000023.4(SGCA):c.850C>T (p.Arg284Cys) rs137852623
NM_000026.4(ADSL):c.1342T>C (p.Ser448Pro) rs771121666
NM_000026.4(ADSL):c.403-4G>A rs373652667
NM_000027.4(AGA):c.302C>T (p.Ala101Val) rs121964908
NM_000030.3(AGXT):c.2T>C (p.Met1Thr) rs138584408
NM_000030.3(AGXT):c.32C>G (p.Pro11Arg) rs34116584
NM_000030.3(AGXT):c.508G>A (p.Gly170Arg) rs121908529
NM_000030.3(AGXT):c.697C>T (p.Arg233Cys) rs121908526
NM_000033.4(ABCD1):c.1172T>C (p.Leu391Pro)
NM_000035.4(ALDOB):c.1013C>T (p.Ala338Val) rs77718928
NM_000035.4(ALDOB):c.113-1_115del rs786204598
NM_000035.4(ALDOB):c.178C>T (p.Arg60Ter) rs118204429
NM_000035.4(ALDOB):c.324+2T>A rs1057516379
NM_000035.4(ALDOB):c.360_363del (p.Asn120fs) rs387906225
NM_000036.2(AMPD1):c.480+1G>C rs143303736
NM_000038.6(APC):c.3173A>G (p.Asp1058Gly) rs148725540
NM_000038.6(APC):c.6354TGC[5] (p.Ala2122dup) rs587780602
NM_000038.6(APC):c.7193C>T (p.Ser2398Phe) rs150882838
NM_000038.6(APC):c.8266A>G (p.Ile2756Val) rs146115809
NM_000043.6(FAS):c.580G>A (p.Glu194Lys) rs56006128
NM_000045.4(ARG1):c.75A>G (p.Glu25=) rs755973004
NM_000045.4(ARG1):c.892G>C (p.Ala298Pro) rs755359126
NM_000046.5(ARSB):c.455G>A (p.Arg152Gln) rs776814144
NM_000046.5(ARSB):c.943C>T (p.Arg315Ter) rs891298440
NM_000048.4(ASL):c.1135C>T (p.Arg379Cys) rs28940287
NM_000048.4(ASL):c.1153C>T (p.Arg385Cys) rs28940286
NM_000048.4(ASL):c.1367G>A (p.Arg456Gln) rs767271619
NM_000048.4(ASL):c.35G>A (p.Arg12Gln) rs145138923
NM_000048.4(ASL):c.545G>A (p.Arg182Gln) rs751590073
NM_000049.3(ASPA):c.212G>A (p.Arg71His) rs104894553
NM_000049.3(ASPA):c.427A>T (p.Ile143Phe) rs199565861
NM_000049.3(ASPA):c.541C>A (p.Pro181Thr) rs786204572
NM_000049.3(ASPA):c.746A>T (p.Asp249Val) rs104894552
NM_000049.3(ASPA):c.770C>G (p.Pro257Arg) rs377217076
NM_000049.3(ASPA):c.79G>A (p.Gly27Arg) rs766328537
NM_000049.3(ASPA):c.859G>A (p.Ala287Thr) rs774323189
NM_000049.4(ASPA):c.502C>T (p.Arg168Cys) rs937670540
NM_000049.4(ASPA):c.854A>C (p.Glu285Ala) rs28940279
NM_000050.4(ASS1):c.970+5G>A rs372128852
NM_000051.3(ATM):c.1235+1G>A rs1555069881
NM_000051.3(ATM):c.1744T>C (p.Phe582Leu) rs2235006
NM_000051.3(ATM):c.1A>C (p.Met1Leu) rs730881359
NM_000051.3(ATM):c.2449G>C (p.Asp817His) rs587778067
NM_000051.3(ATM):c.378del (p.Asp126fs) rs587781449
NM_000051.3(ATM):c.4735C>T (p.Gln1579Ter) rs869312755
NM_000051.3(ATM):c.6154G>A (p.Glu2052Lys) rs202206540
NM_000051.3(ATM):c.7271T>G (p.Val2424Gly) rs28904921
NM_000051.3(ATM):c.8152-1G>A rs1398616877
NM_000051.3(ATM):c.8266A>T (p.Lys2756Ter) rs371638537
NM_000051.3(ATM):c.900del (p.Gly301fs) rs1555067335
NM_000051.4(ATM):c.1444A>C (p.Lys482Gln) rs202173660
NM_000051.4(ATM):c.3925G>A (p.Ala1309Thr) rs149711770
NM_000051.4(ATM):c.4402G>A (p.Val1468Ile) rs369903995
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys) rs34640941
NM_000051.4(ATM):c.496+4T>C rs587781375
NM_000051.4(ATM):c.6176C>T (p.Thr2059Ile) rs144761622
NM_000051.4(ATM):c.8395_8404del (p.Phe2799fs) rs786202800
NM_000051.4(ATM):c.9086G>A (p.Gly3029Asp) rs201199629
NM_000053.4(ATP7B):c.1708-1G>C rs137853280
NM_000053.4(ATP7B):c.1877G>C (p.Gly626Ala) rs587783299
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg) rs121907998
NM_000053.4(ATP7B):c.19_20del (p.Gln7fs) rs749363958
NM_000053.4(ATP7B):c.2305A>G (p.Met769Val) rs193922103
NM_000053.4(ATP7B):c.2333G>T (p.Arg778Leu) rs28942074
NM_000053.4(ATP7B):c.2605G>A (p.Gly869Arg) rs191312027
NM_000053.4(ATP7B):c.3207C>A (p.His1069Gln) rs76151636
NM_000053.4(ATP7B):c.3422C>G (p.Pro1141Arg) rs757549770
NM_000053.4(ATP7B):c.3646G>A (p.Val1216Met) rs776280797
NM_000053.4(ATP7B):c.4021G>A (p.Gly1341Ser) rs587783317
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.1490A>G (p.Gln497Arg) rs368547042
NM_000057.4(BLM):c.2695C>T (p.Arg899Ter) rs587779884
NM_000057.4(BLM):c.3751+10C>T rs199685140
NM_000059.3(BRCA2):c.5268A>G (p.Val1756=) rs199879914
NM_000059.3(BRCA2):c.742G>A (p.Ala248Thr) rs55854959
NM_000059.3(BRCA2):c.8215G>A (p.Val2739Ile) rs80359069
NM_000059.3(BRCA2):c.9592T>C (p.Cys3198Arg) rs80359229
NM_000059.4(BRCA2):c.5946del (p.Ser1982fs) rs80359550
NM_000064.4(C3):c.3343G>A (p.Asp1115Asn) rs121909585
NM_000070.2(CAPN3):c.1319G>A rs376107921
NM_000070.3(CAPN3):c.1076C>T (p.Pro359Leu) rs794727895
NM_000070.3(CAPN3):c.1468C>T (p.Arg490Trp) rs141656719
NM_000070.3(CAPN3):c.1557C>T (p.His519=) rs368385372
NM_000070.3(CAPN3):c.2120A>G (p.Asp707Gly) rs200379491
NM_000070.3(CAPN3):c.232C>A (p.Pro78Thr) rs138867099
NM_000070.3(CAPN3):c.2380+19C>T rs141234995
NM_000070.3(CAPN3):c.59del (p.Pro20fs) rs1555417271
NM_000071.2(CBS):c.1007G>A (p.Arg336His) rs760417941
NM_000071.2(CBS):c.1039G>A (p.Gly347Ser) rs771298943
NM_000071.2(CBS):c.146C>T (p.Pro49Leu) rs148865119
NM_000071.2(CBS):c.341C>T (p.Ala114Val) rs121964964
NM_000071.2(CBS):c.737-1G>C rs757428597
NM_000080.4(CHRNE):c.37G>A (p.Gly13Arg) rs372635387
NM_000083.3(CLCN1):c.2545G>A (p.Ala849Thr) rs201861334
NM_000083.3(CLCN1):c.2680C>T (p.Arg894Ter) rs55960271
NM_000083.3(CLCN1):c.501C>G (p.Phe167Leu) rs149729531
NM_000088.3(COL1A1):c.1583G>A (p.Arg528His) rs144751329
NM_000088.3(COL1A1):c.1882G>A (p.Ala628Thr) rs113950465
NM_000089.3(COL1A2):c.1342G>C (p.Gly448Arg) rs1584320605
NM_000089.4(COL1A2):c.3034G>A (p.Gly1012Ser) rs72659319
NM_000098.3(CPT2):c.1507C>T (p.Arg503Cys) rs74315296
NM_000098.3(CPT2):c.1569_1570del (p.His523fs) rs1572385947
NM_000098.3(CPT2):c.338C>T (p.Ser113Leu) rs74315294
NM_000104.3(CYP1B1):c.1103G>A (p.Arg368His) rs79204362
NM_000104.3(CYP1B1):c.1159G>A (p.Glu387Lys) rs55989760
NM_000104.4(CYP1B1):c.182G>A rs28936700
NM_000109.4(DMD):c.5715+1G>T rs886043041
NM_000110.3(DPYD):c.1774C>T (p.Arg592Trp) rs59086055
NM_000110.3(DPYD):c.763-2A>G rs1300669537
NM_000110.4(DPYD):c.1905+1G>A rs3918290
NM_000113.3(TOR1A):c.907_909delGAG (p.Glu303del) rs80358233
NM_000118.3(ENG):c.640G>A (p.Gly214Ser) rs150932144
NM_000119.3(EPB42):c.100+1G>A rs150530456
NM_000124.4(ERCC6):c.1518del (p.Lys506fs) rs786205168
NM_000124.4(ERCC6):c.2599-26A>G rs4253196
NM_000128.4(F11):c.1304+12G>A
NM_000130.4(F5):c.1601G>A (p.Arg534Gln) rs6025
NM_000135.4(FANCA):c.2101A>G (p.Lys701Glu) rs56369086
NM_000135.4(FANCA):c.2632G>C (p.Glu878Gln)
NM_000135.4(FANCA):c.3391A>G (p.Thr1131Ala) rs574034197
NM_000135.4(FANCA):c.3430C>T (p.Arg1144Trp) rs143671872
NM_000135.4(FANCA):c.3514-4A>G rs149388130
NM_000135.4(FANCA):c.3583C>T (p.Arg1195Trp) rs143642304
NM_000135.4(FANCA):c.377C>G (p.Thr126Arg) rs139160837
NM_000135.4(FANCA):c.4303G>A (p.Ala1435Thr) rs74977201
NM_000136.3(FANCC):c.1156T>C (p.Ser386Pro) rs41281202
NM_000136.3(FANCC):c.1642C>T (p.Arg548Ter) rs104886457
NM_000136.3(FANCC):c.1661T>C (p.Leu554Pro) rs104886458
NM_000136.3(FANCC):c.339G>A (p.Trp113Ter) rs1057516291
NM_000136.3(FANCC):c.37C>T (p.Gln13Ter) rs121917784
NM_000136.3(FANCC):c.455dup (p.Asn152fs) rs774170058
NM_000136.3(FANCC):c.487_490del (p.Glu163fs) rs730881708
NM_000136.3(FANCC):c.489_490del (p.Asn164fs) rs730881708
NM_000136.3(FANCC):c.521+1G>A rs145394391
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365
NM_000136.3(FANCC):c.65G>A (p.Trp22Ter) rs377294947
NM_000137.3(FAH):c.1009G>A (p.Gly337Ser) rs80338900
NM_000137.3(FAH):c.192+1G>T rs786204683
NM_000137.3(FAH):c.192G>T (p.Gln64His) rs80338894
NM_000137.3(FAH):c.398A>T (p.His133Leu) rs775152764
NM_000137.3(FAH):c.554-1G>T rs80338895
NM_000137.3(FAH):c.706+2T>G rs1555441597
NM_000137.3(FAH):c.782C>T (p.Pro261Leu) rs80338898
NM_000137.3(FAH):c.81+2T>A rs772895065
NM_000137.4(FAH):c.1062+5G>A rs80338901
NM_000137.4(FAH):c.553+2_553+3del rs1555441272
NM_000137.4(FAH):c.726G>A (p.Trp242Ter) rs1567118987
NM_000138.4(FBN1):c.8176C>T (p.Arg2726Trp) rs61746008
NM_000138.5(FBN1):c.3509G>A (p.Arg1170His) rs137854475
NM_000142.5(FGFR3):c.1118A>G (p.Tyr373Cys) rs121913485
NM_000142.5(FGFR3):c.1138G>A rs28931614
NM_000142.5(FGFR3):c.1948A>G (p.Lys650Glu) rs78311289
NM_000142.5(FGFR3):c.2419T>G (p.Ter807Gly) rs121913101
NM_000142.5(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000151.4(G6PC1):c.113A>T (p.Asp38Val) rs104894565
NM_000151.4(G6PC1):c.14T>G (p.Met5Arg) rs1250172816
NM_000151.4(G6PC1):c.247C>T (p.Arg83Cys) rs1801175
NM_000151.4(G6PC1):c.370G>A (p.Ala124Thr) rs104894568
NM_000151.4(G6PC1):c.562G>A (p.Gly188Ser) rs80356482
NM_000151.4(G6PC1):c.648G>T (p.Leu216=) rs80356484
NM_000151.4(G6PC1):c.724C>T (p.Gln242Ter) rs80356485
NM_000151.4(G6PC1):c.809G>T (p.Gly270Val) rs80356483
NM_000151.4(G6PC1):c.969C>A (p.Tyr323Ter) rs780226142
NM_000152.5(GAA):c.-32-13T>G rs386834236
NM_000152.5(GAA):c.1935C>A (p.Asp645Glu) rs28940868
NM_000152.5(GAA):c.2560C>T (p.Arg854Ter) rs121907943
NM_000152.5(GAA):c.693-4G>T rs200088236
NM_000152.5(GAA):c.752C>T (p.Ser251Leu) rs200856561
NM_000152.5(GAA):c.761C>T (p.Ser254Leu) rs577915581
NM_000153.4(GALC):c.1586C>T (p.Thr529Met) rs200960659
NM_000153.4(GALC):c.1592G>A (p.Arg531His) rs200378205
NM_000153.4(GALC):c.1901T>C (p.Leu634Ser) rs138577661
NM_000153.4(GALC):c.2041G>A (p.Val681Met) rs200607029
NM_000153.4(GALC):c.349A>G (p.Met117Val) rs145580093
NM_000153.4(GALC):c.673G>A (p.Ala225Thr)
NM_000153.4(GALC):c.7dup (p.Glu3fs) rs1555384381
NM_000153.4(GALC):c.956A>G (p.Tyr319Cys) rs183105855
NM_000153.4(GALC):c.997G>A (p.Gly333Arg) rs190921137
NM_000155.4(GALT):c.1030C>A (p.Gln344Lys) rs111033814
NM_000155.4(GALT):c.1057C>T (p.Gln353Ter) rs111033818
NM_000155.4(GALT):c.292G>C (p.Asp98His) rs111033670
NM_000155.4(GALT):c.404C>T (p.Ser135Leu) rs111033690
NM_000155.4(GALT):c.428C>T (p.Ser143Leu) rs111033697
NM_000155.4(GALT):c.443G>A (p.Arg148Gln) rs111033694
NM_000155.4(GALT):c.563A>G (p.Gln188Arg) rs75391579
NM_000155.4(GALT):c.602G>A (p.Arg201His) rs111033735
NM_000155.4(GALT):c.607G>A (p.Glu203Lys) rs111033736
NM_000155.4(GALT):c.626A>G (p.Tyr209Cys) rs111033744
NM_000155.4(GALT):c.775C>T (p.Arg259Trp) rs786204763
NM_000155.4(GALT):c.814C>T (p.Arg272Cys) rs111033766
NM_000155.4(GALT):c.947G>A (p.Trp316Ter) rs111033790
NM_000155.4(GALT):c.982C>T (p.Arg328Cys) rs144993986
NM_000155.4(GALT):c.983G>A (p.Arg328His) rs111033802
NM_000155.4(GALT):c.998G>A (p.Arg333Gln) rs111033808
NM_000156.6(GAMT):c.438A>G (p.Thr146=) rs80338733
NM_000157.3(GBA):c.1448T>C rs421016
NM_000157.4(GBA):c.115+1G>A rs104886460
NM_000157.4(GBA):c.1246G>A (p.Gly416Ser) rs121908311
NM_000157.4(GBA):c.1297G>T (p.Val433Leu) rs80356769
NM_000157.4(GBA):c.1342G>C (p.Asp448His) rs1064651
NM_000157.4(GBA):c.1448T>G (p.Leu483Arg) rs421016
NM_000157.4(GBA):c.1504C>T (p.Arg502Cys) rs80356771
NM_000157.4(GBA):c.1505G>A (p.Arg502His) rs80356772
NM_000157.4(GBA):c.1604G>A (p.Arg535His) rs75822236
NM_000157.4(GBA):c.680A>G (p.Asn227Ser) rs364897
NM_000157.4(GBA):c.681T>G (p.Asn227Lys) rs381418
NM_000157.4(GBA):c.703T>C (p.Ser235Pro) rs1064644
NM_000157.4(GBA):c.882T>G (p.His294Gln) rs367968666
NM_000157.4(GBA):c.887G>A (p.Arg296Gln) rs78973108
NM_000158.4(GBE1):c.1570C>T (p.Arg524Ter) rs137852888
NM_000158.4(GBE1):c.555+1G>T rs759707498
NM_000159.4(GCDH):c.1063C>T (p.Arg355Cys) rs781477694
NM_000159.4(GCDH):c.1204C>T (p.Arg402Trp) rs121434369
NM_000159.4(GCDH):c.572T>C (p.Met191Thr) rs149120354
NM_000169.2(GLA):c.1088G>A (p.Arg363His) rs111422676
NM_000169.2(GLA):c.886A>G (p.Met296Val) rs104894830
NM_000170.2(GLDC):c.2216G>A (p.Arg739His) rs121964980
NM_000170.2(GLDC):c.2281G>A (p.Gly761Arg) rs386833549
NM_000170.2(GLDC):c.2293C>T (p.Pro765Ser) rs386833551
NM_000170.2(GLDC):c.793del (p.Gln265fs) rs386833586
NM_000170.3(GLDC):c.2052+1G>A rs765906340
NM_000181.4(GUSB):c.1429C>T (p.Arg477Trp) rs774393243
NM_000186.3(CFH):c.3590T>C (p.Val1197Ala) rs460184
NM_000199.5(SGSH):c.1339G>A (p.Glu447Lys) rs104894639
NM_000203.5(IDUA):c.701G>C (p.Ser234Thr) rs201826605
NM_000204.4(CFI):c.1642G>C (p.Glu548Gln) rs7437875
NM_000214.3(JAG1):c.133G>T (p.Val45Leu) rs183974372
NM_000222.2(KIT):c.1694G>T (p.Gly565Val) rs200945282
NM_000228.3(LAMB3):c.1486-1G>A rs1418276828
NM_000228.3(LAMB3):c.1705C>T (p.Arg569Ter) rs201551805
NM_000228.3(LAMB3):c.2842del (p.Val948fs) rs772421306
NM_000235.4(LIPA):c.894G>A (p.Gln298=) rs116928232
NM_000236.3(LIPC):c.738_739dup (p.Gly247fs) rs749932377
NM_000243.3(MEFV):c.2080A>G rs61752717
NM_000244.3(MEN1):c.1113A>T (p.Glu371Asp) rs149383809
NM_000253.3(MTTP):c.2657C>T (p.Pro886Leu) rs144600401
NM_000257.4(MYH7):c.2710C>T (p.Arg904Cys) rs727503253
NM_000260.4(MYO7A):c.2476G>A (p.Ala826Thr) rs368341987
NM_000260.4(MYO7A):c.3764del (p.Lys1255fs) rs111033347
NM_000263.4(NAGLU):c.1811C>T (p.Pro604Leu) rs751203469
NM_000267.3(NF1):c.1392+5_1392+6delinsTT rs587782851
NM_000267.3(NF1):c.1405A>G (p.Lys469Glu) rs1555612271
NM_000267.3(NF1):c.5648A>G (p.Asn1883Ser) rs864622647
NM_000267.3(NF1):c.623C>T (p.Ala208Val) rs758624540
NM_000268.4(NF2):c.1439C>T (p.Thr480Met) rs145666157
NM_000271.5(NPC1):c.1351G>A (p.Glu451Lys) rs781065429
NM_000271.5(NPC1):c.1436G>A (p.Cys479Tyr) rs1555636659
NM_000271.5(NPC1):c.2428G>T (p.Val810Phe) rs145362908
NM_000271.5(NPC1):c.2621A>T (p.Asp874Val) rs372030650
NM_000271.5(NPC1):c.2761C>T (p.Gln921Ter) rs786204512
NM_000271.5(NPC1):c.2848G>A (p.Val950Met) rs120074135
NM_000271.5(NPC1):c.2862G>A (p.Ser954=) rs373517774
NM_000271.5(NPC1):c.2932C>T (p.Arg978Cys) rs28942108
NM_000271.5(NPC1):c.2974G>T (p.Gly992Trp) rs80358254
NM_000271.5(NPC1):c.3011C>T (p.Ser1004Leu) rs150334966
NM_000271.5(NPC1):c.3019C>G (p.Pro1007Ala) rs80358257
NM_000271.5(NPC1):c.3182T>C (p.Ile1061Thr) rs80358259
NM_000271.5(NPC1):c.3467A>G (p.Asn1156Ser) rs28942105
NM_000271.5(NPC1):c.410C>T (p.Thr137Met) rs372947142
NM_000271.5(NPC1):c.839del (p.Leu280fs) rs1057518711
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937
NM_000277.3(PAH):c.1199+17G>A rs62508613
NM_000277.3(PAH):c.1199+1G>C rs62509015
NM_000277.3(PAH):c.1208C>T (p.Ala403Val) rs5030857
NM_000277.3(PAH):c.1243G>A (p.Asp415Asn) rs62644499
NM_000277.3(PAH):c.194T>C (p.Ile65Thr) rs75193786
NM_000277.3(PAH):c.320A>G (p.His107Arg) rs542645236
NM_000277.3(PAH):c.355C>T (p.Pro119Ser) rs398123292
NM_000277.3(PAH):c.506G>A (p.Arg169His) rs199475679
NM_000277.3(PAH):c.527G>T (p.Arg176Leu) rs74486803
NM_000277.3(PAH):c.529G>A (p.Val177Met) rs199475602
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152
NM_000277.3(PAH):c.722del (p.Arg241fs) rs199475657
NM_000277.3(PAH):c.782G>A (p.Arg261Gln) rs5030849
NM_000277.3(PAH):c.818C>T (p.Ser273Phe) rs62514953
NM_000277.3(PAH):c.842+1G>A rs5030852
NM_000277.3(PAH):c.842C>T (p.Pro281Leu) rs5030851
NM_000277.3(PAH):c.844G>A (p.Asp282Asn) rs199475582
NM_000277.3(PAH):c.912+1G>A rs62514956
NM_000282.4(PCCA):c.425G>A (p.Gly142Asp) rs796052019
NM_000284.4(PDHA1):c.292-23A>G rs1057518702
NM_000287.4(PEX6):c.1802G>A (p.Arg601Gln) rs34324426
NM_000288.4(PEX7):c.13_19dup (p.Gly7fs) rs62636519
NM_000288.4(PEX7):c.618G>A (p.Trp206Ter) rs61753245
NM_000288.4(PEX7):c.649G>A (p.Gly217Arg) rs121909152
NM_000288.4(PEX7):c.653C>T (p.Ala218Val) rs121909151
NM_000288.4(PEX7):c.875T>A (p.Leu292Ter) rs1805137
NM_000288.4(PEX7):c.903+1G>C rs148591292
NM_000302.4(PLOD1):c.2032G>A (p.Gly678Arg) rs121913551
NM_000303.3(PMM2):c.357C>A (p.Phe119Leu) rs80338701
NM_000303.3(PMM2):c.368G>A (p.Arg123Gln) rs141498002
NM_000303.3(PMM2):c.422G>A (p.Arg141His) rs28936415
NM_000303.3(PMM2):c.430T>C (p.Phe144Leu) rs150719105
NM_000303.3(PMM2):c.470T>C (p.Phe157Ser) rs190521996
NM_000303.3(PMM2):c.620T>C (p.Phe207Ser) rs532870929
NM_000303.3(PMM2):c.640-9T>G rs370160676
NM_000303.3(PMM2):c.647A>G (p.Asn216Ser) rs78290141
NM_000303.3(PMM2):c.710C>G (p.Thr237Arg) rs80338708
NM_000310.3(PPT1):c.29T>A (p.Leu10Ter) rs137852699
NM_000310.3(PPT1):c.451C>T (p.Arg151Ter) rs137852700
NM_000317.3(PTS):c.238A>G (p.Met80Val) rs1057517810
NM_000317.3(PTS):c.297C>A (p.Tyr99Ter) rs145882709
NM_000317.3(PTS):c.370G>T (p.Val124Leu) rs150726932
NM_000318.3(PEX2):c.209A>G (p.Tyr70Cys) rs35689779
NM_000329.3(RPE65):c.271C>T (p.Arg91Trp) rs61752871
NM_000334.4(SCN4A):c.1796A>G (p.His599Arg) rs187401185
NM_000335.5(SCN5A):c.2074C>A (p.Gln692Lys) rs45553235
NM_000335.5(SCN5A):c.3908C>T (p.Thr1303Met) rs199473603
NM_000342.3(SLC4A1):c.980C>G (p.Pro327Arg) rs28931583
NM_000350.2(ABCA4):c.5882G>A rs1800553
NM_000350.3(ABCA4):c.1804C>T (p.Arg602Trp) rs61749409
NM_000350.3(ABCA4):c.3322C>T (p.Arg1108Cys) rs61750120
NM_000350.3(ABCA4):c.4457C>T (p.Pro1486Leu) rs61750145
NM_000350.3(ABCA4):c.6221G>T (p.Gly2074Val) rs367839100
NM_000355.4(TCN2):c.784G>C (p.Glu262Gln) rs61743653
NM_000359.3(TGM1):c.944G>T (p.Arg315Leu) rs143473912
NM_000360.4(TH):c.1035_1045del (p.Gln346fs) rs1590166832
NM_000360.4(TH):c.1400A>G (p.Asp467Gly) rs771351747
NM_000360.4(TH):c.605G>A (p.Arg202His) rs80338892
NM_000360.4(TH):c.81G>T (p.Glu27Asp) rs139742336
NM_000370.3(TTPA):c.358G>A (p.Ala120Thr) rs143010236
NM_000372.5(TYR):c.1217C>T (p.Pro406Leu) rs104894313
NM_000382.3(ALDH3A2):c.471+1del
NM_000382.3(ALDH3A2):c.551C>T (p.Thr184Met) rs72547562
NM_000391.4(TPP1):c.1094G>A (p.Cys365Tyr) rs119455954
NM_000391.4(TPP1):c.311T>A (p.Leu104Ter) rs202189057
NM_000391.4(TPP1):c.509-1G>C rs56144125
NM_000391.4(TPP1):c.622C>T (p.Arg208Ter) rs119455955
NM_000392.5(ABCC2):c.2273G>T (p.Gly758Val) rs786205465
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.653C>T (p.Ser218Phe) rs5030868
NM_000406.3(GNRHR):c.317A>G (p.Gln106Arg) rs104893836
NM_000414.4(HSD17B4):c.1210-1G>A rs1554065671
NM_000414.4(HSD17B4):c.46G>A (p.Gly16Ser) rs137853096
NM_000414.4(HSD17B4):c.742C>T (p.Arg248Cys) rs969485098
NM_000414.4(HSD17B4):c.868+1del rs749532705
NM_000414.4(HSD17B4):c.936_937del (p.His312_Thr313insTer) rs758055753
NM_000419.5(ITGA2B):c.3076C>T (p.Arg1026Trp) rs766503255
NM_000426.3(LAMA2):c.3556-13T>A rs775278003
NM_000430.4(PAFAH1B1):c.484G>A (p.Gly162Ser) rs121434487
NM_000431.4(MVK):c.1129G>A (p.Val377Ile) rs28934897
NM_000433.3(NCF2):c.563G>A (p.Arg188Lys) rs115365142
NM_000433.4(NCF2):c.938C>T (p.Pro313Leu) rs137937390
NM_000435.3(NOTCH3):c.3704A>T (p.His1235Leu) rs55882518
NM_000436.4(OXCT1):c.1402C>T (p.Arg468Cys) rs1327401976
NM_000441.2(SLC26A4):c.1001+1G>A rs80338849
NM_000441.2(SLC26A4):c.1281TGC[1] (p.Ala429del) rs111033306
NM_000441.2(SLC26A4):c.2168A>G (p.His723Arg) rs121908362
NM_000441.2(SLC26A4):c.2319+1G>A rs542079779
NM_000441.2(SLC26A4):c.918+2T>C rs912147281
NM_000441.2(SLC26A4):c.919-2A>G rs111033313
NM_000443.4(ABCB4):c.1529A>G (p.Asn510Ser) rs375315619
NM_000443.4(ABCB4):c.2692G>A (p.Glu898Lys)
NM_000443.4(ABCB4):c.696C>T (p.Ala232=) rs8187791
NM_000460.4(THPO):c.579C>T (p.Asn193=) rs202166253
NM_000462.5(UBE3A):c.2133+9T>C rs79328837
NM_000466.3(PEX1):c.2875C>T (p.Arg959Ter) rs1057517481
NM_000466.3(PEX1):c.3373A>T (p.Met1125Leu) rs142994610
NM_000466.3(PEX1):c.358-1G>T rs1057517479
NM_000478.6(ALPL):c.98C>T (p.Ala33Val) rs121918005
NM_000481.4(AMT):c.212A>C (p.His71Pro) rs1053797603
NM_000481.4(AMT):c.280C>T (p.Arg94Trp) rs1126422
NM_000487.6(ARSA):c.1010A>T (p.Asp337Val) rs74315475
NM_000487.6(ARSA):c.1283C>T (p.Pro428Leu) rs28940893
NM_000487.6(ARSA):c.257G>A (p.Arg86Gln) rs74315458
NM_000487.6(ARSA):c.465+1G>A rs80338815
NM_000487.6(ARSA):c.869G>A (p.Arg290His) rs199476355
NM_000487.6(ARSA):c.877C>T (p.Arg293Ter) rs1555900678
NM_000487.6(ARSA):c.979+8C>T
NM_000492.3(CFTR):c.2856G>C (p.Met952Ile) rs151048781
NM_000492.3(CFTR):c.3717+40A>G rs397508595
NM_000492.4(CFTR):c.1399C>T (p.Leu467Phe) rs1800089
NM_000492.4(CFTR):c.220C>T (p.Arg74Trp) rs115545701
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000492.4(CFTR):c.3808G>A (p.Asp1270Asn) rs11971167
NM_000500.7(CYP21A2):c.955C>T (p.Gln319Ter) rs6445
NM_000500.9(CYP21A2):c.293-13C>G rs6467
NM_000512.5(GALNS):c.1156C>T (p.Arg386Cys) rs118204437
NM_000518.4(HBB):c.208G>A (p.Gly70Ser) rs33947415
NM_000518.4(HBB):c.364G>A (p.Glu122Lys) rs33946267
NM_000518.5(HBB):c.92+6T>C rs35724775
NM_000520.6(HEXA):c.2T>C (p.Met1Thr) rs786204721
NM_000520.6(HEXA):c.739C>T (p.Arg247Trp) rs121907970
NM_000520.6(HEXA):c.805G>A (p.Gly269Ser) rs121907954
NM_000520.6(HEXA):c.806-7G>A rs770932296
NM_000521.4(HEXB):c.552T>G (p.Tyr184Ter) rs573447174
NM_000521.4(HEXB):c.558+1G>C
NM_000527.5(LDLR):c.313+2T>C rs793888517
NM_000528.4(MAN2B1):c.1383C>G (p.Tyr461Ter) rs775200333
NM_000528.4(MAN2B1):c.2248C>T (p.Arg750Trp) rs80338680
NM_000528.4(MAN2B1):c.2782G>C (p.Gly928Arg) rs754733253
NM_000528.4(MAN2B1):c.2802dup (p.Val935fs) rs1057516864
NM_000532.5(PCCB):c.1301C>T (p.Ala434Val) rs751538672
NM_000532.5(PCCB):c.1304A>G (p.Tyr435Cys) rs121964961
NM_000532.5(PCCB):c.1606A>G (p.Asn536Asp) rs202247823
NM_000532.5(PCCB):c.484G>T (p.Gly162Trp) rs754752068
NM_000540.2(RYR1):c.13673G>A (p.Arg4558Gln) rs118192130
NM_000540.2(RYR1):c.14581C>T (p.Arg4861Cys) rs118192181
NM_000540.2(RYR1):c.15015G>A (p.Thr5005=) rs2229149
NM_000540.2(RYR1):c.2996G>A (p.Arg999His) rs180714609
NM_000540.3(RYR1):c.7354C>T (p.Arg2452Trp) rs118192124
NM_000543.4(SMPD1):c.1426C>T rs182812968
NM_000543.5(SMPD1):c.1092-1G>C rs398123474
NM_000543.5(SMPD1):c.1133G>A (p.Arg378His) rs559088058
NM_000543.5(SMPD1):c.1145_1146del (p.Leu382fs) rs1057516432
NM_000543.5(SMPD1):c.1264-1G>T rs1057516454
NM_000543.5(SMPD1):c.1280A>G (p.His427Arg) rs794727629
NM_000543.5(SMPD1):c.1341-1G>A rs1057516854
NM_000543.5(SMPD1):c.1430C>T (p.Pro477Leu) rs753508874
NM_000543.5(SMPD1):c.1474G>A (p.Gly492Ser) rs144873307
NM_000543.5(SMPD1):c.1624C>T (p.Arg542Ter) rs398123478
NM_000543.5(SMPD1):c.1735G>A (p.Gly579Ser) rs120074119
NM_000543.5(SMPD1):c.241C>T (p.Arg81Ter) rs868423827
NM_000543.5(SMPD1):c.533T>A (p.Ile178Asn) rs749780769
NM_000543.5(SMPD1):c.689G>A (p.Arg230His) rs141387770
NM_000543.5(SMPD1):c.739G>A (p.Gly247Ser) rs587779408
NM_000543.5(SMPD1):c.872G>A (p.Arg291His) rs1803161
NM_000543.5(SMPD1):c.995C>G (p.Pro332Arg) rs202081954
NM_000546.5(TP53):c.787A>G (p.Asn263Asp) rs72661119
NM_000548.5(TSC2):c.2882C>T (p.Pro961Leu) rs370415754
NM_000548.5(TSC2):c.325G>A (p.Val109Met) rs369932305
NM_000548.5(TSC2):c.3293C>T (p.Pro1098Leu) rs773545852
NM_000548.5(TSC2):c.3491C>T (p.Ala1164Val) rs45448801
NM_000548.5(TSC2):c.3538A>G (p.Lys1180Glu) rs751708490
NM_000548.5(TSC2):c.5028G>A (p.Leu1676=) rs45475501
NM_000548.5(TSC2):c.743A>G (p.Asn248Ser) rs762104739
NM_000553.6(WRN):c.1105C>T (p.Arg369Ter) rs17847577
NM_000553.6(WRN):c.1181C>T (p.Ser394Leu) rs200487813
NM_000553.6(WRN):c.2937T>G (p.Ile979Met) rs147802438
NM_000553.6(WRN):c.2959C>T (p.Arg987Ter) rs747319628
NM_000553.6(WRN):c.355+4G>C rs145764920
NM_000553.6(WRN):c.3875C>A (p.Ser1292Tyr) rs142614369
NM_000628.5(IL10RB):c.215C>T (p.Thr72Met) rs148466782
NM_000642.3(AGL):c.4260-12A>G rs369973784
NM_000642.3(AGL):c.4353G>T (p.Trp1451Cys) rs775685508
NM_000732.4(CD3D):c.52C>A (p.Gln18Lys) rs141902449
NM_000733.4(CD3E):c.103+10T>C rs143015515
NM_000781.3(CYP11A1):c.235G>A (p.Val79Ile) rs143655263
NM_000784.4(CYP27A1):c.1183C>T (p.Arg395Cys) rs121908096
NM_000784.4(CYP27A1):c.1214G>A (p.Arg405Gln) rs121908099
NM_000784.4(CYP27A1):c.1263+1G>A rs397515355
NM_000784.4(CYP27A1):c.1595G>A (p.Ter532=)
NM_000784.4(CYP27A1):c.379C>T (p.Arg127Trp) rs201114717
NM_000784.4(CYP27A1):c.435G>T (p.Gly145=) rs587778796
NM_000784.4(CYP27A1):c.475C>T (p.Gln159Ter) rs72551314
NM_000834.4(GRIN2B):c.1306T>C (p.Cys436Arg) rs1565478152
NM_000834.4(GRIN2B):c.2471T>G (p.Met824Arg) rs1565455878
NM_000834.5(GRIN2B):c.1721TCTTTG[1] (p.574VF[1]) rs1555111511
NM_000937.5(POLR2A):c.83C>G (p.Pro28Arg)
NM_000969.5(RPL5):c.403A>G (p.Ile135Val) rs200075817
NM_001001547.3(CD36):c.609+1G>A rs755124649
NM_001001557.4(GDF6):c.1271A>G (p.Lys424Arg) rs121909353
NM_001005498.4(RHBDF2):c.1531G>A (p.Gly511Ser)
NM_001006658.2(CR2):c.1676G>A (p.Gly559Glu) rs143614333
NM_001006658.3(CR2):c.2903-3C>A rs372214909
NM_001007792.1(NTRK1):c.163C>A (p.Arg55Ser) rs543320028
NM_001007792.1(NTRK1):c.1752_1753insT (p.Pro585fs) rs80356676
NM_001014.5(RPS10):c.71A>G (p.Lys24Arg) rs201147592
NM_001017420.3(ESCO2):c.1132-7A>G rs80359862
NM_001018005.2(TPM1):c.475G>A (p.Asp159Asn) rs397516373
NM_001024630.4(RUNX2):c.523A>G (p.Met175Val)
NM_001029896.2(WDR45):c.183C>A (p.Asn61Lys)
NM_001029896.2(WDR45):c.235+5G>A
NM_001034850.2(RETREG1):c.926C>G (p.Ser309Ter) rs137852739
NM_001037.5(SCN1B):c.449-2A>G rs1600370558
NM_001040142.2(SCN2A):c.2995G>A (p.Glu999Lys) rs796053126
NM_001040142.2(SCN2A):c.5645G>A (p.Arg1882Gln) rs794727444
NM_001041.4(SI):c.3218G>A (p.Gly1073Asp) rs121912616
NM_001042492.3(NF1):c.4330A>G (p.Lys1444Glu) rs137854550
NM_001048174.2(MUTYH):c.850-2A>G rs77542170
NM_001069.3(TUBB2A):c.743C>T (p.Ala248Val) rs2808001
NM_001077365.2(POMT1):c.1545C>G (p.Ser515Arg) rs150367385
NM_001079802.2(FKTN):c.1112A>G (p.Tyr371Cys) rs119464998
NM_001079866.2(BCS1L):c.598C>T (p.Arg200Ter) rs776838028
NM_001079866.2(BCS1L):c.871C>T (p.Arg291Ter) rs201454788
NM_001080397.2(SLC45A1):c.628C>T (p.Arg210Trp) rs781036625
NM_001080476.3(GRXCR1):c.469G>T (p.Glu157Ter)
NM_001080483.3(MYMK):c.271C>A (p.Pro91Thr) rs137868995
NM_001080522.2(CC2D2A):c.517C>T (p.Arg173Ter) rs386833763
NM_001083961.2(WDR62):c.1576G>A (p.Glu526Lys) rs147875659
NM_001089.3(ABCA3):c.875A>T (p.Glu292Val) rs149989682
NM_001098484.3(SLC4A4):c.1297T>C (p.Cys433Arg)
NM_001100.3(ACTA1):c.990+1G>T rs372686280
NM_001100913.3(PACS2):c.625G>A (p.Glu209Lys) rs1555408401
NM_001102.4(ACTN1):c.137G>A (p.Arg46Gln) rs387907348
NM_001110792.2(MECP2):c.490C>G (p.Pro164Ala) rs179363900
NM_001110792.2(MECP2):c.509C>T (p.Thr170Met) rs28934906
NM_001110792.2(MECP2):c.916C>T (p.Arg306Ter) rs61751362
NM_001110792.2(MECP2):c.961C>T (p.Arg321Trp) rs61751444
NM_001111.5(ADAR):c.3019G>A (p.Gly1007Arg) rs398122822
NM_001111.5(ADAR):c.577C>G (p.Pro193Ala) rs145588689
NM_001111067.4(ACVR1):c.983G>A (p.Gly328Glu) rs387906589
NM_001113378.1(FANCI):c.1573A>G (p.Met525Val) rs144908351
NM_001122681.2(SH3BP2):c.1686A>G (p.Ter562Trp) rs190648042
NM_001126105.2(SLC7A7):c.1402C>T (p.Arg468Ter) rs386833807
NM_001126108.2(SLC12A3):c.2549T>C (p.Leu850Pro) rs121909379
NM_001126131.2(POLG):c.1760C>T (p.Pro587Leu) rs113994096
NM_001126131.2(POLG):c.2890C>T (p.Arg964Cys) rs201477273
NM_001126131.2(POLG):c.752C>T (p.Thr251Ile) rs113994094
NM_001126131.2(POLG):c.911T>G (p.Leu304Arg) rs121918044
NM_001127178.3(PIGG):c.2053G>A (p.Gly685Ser) rs200770933
NM_001127178.3(PIGG):c.422C>T (p.Ala141Val) rs116772777
NM_001127178.3(PIGG):c.724G>A (p.Val242Met) rs144411585
NM_001127178.3(PIGG):c.998G>A (p.Ser333Asn) rs185712951
NM_001128425.1(MUTYH):c.1435G>T (p.Glu479Ter) rs376790729
NM_001134232.2(TMEM106B):c.754G>A (p.Asp252Asn) rs1554310600
NM_001134363.3(RBM20):c.2176C>T (p.Arg726Ter) rs1393804220
NM_001134363.3(RBM20):c.2714T>A (p.Met905Lys) rs1564664312
NM_001134407.3(GRIN2A):c.4170G>A (p.Ser1390=) rs1057522803
NM_001139.3(ALOX12B):c.1642C>T (p.Arg548Trp) rs397514532
NM_001139.3(ALOX12B):c.830T>A (p.Ile277Asn)
NM_001139.3(ALOX12B):c.83G>A (p.Gly28Glu) rs1567985822
NM_001142800.2(EYS):c.6119T>A (p.Val2040Asp) rs201580493
NM_001144967.3(NEDD4L):c.2677G>A (p.Glu893Lys)
NM_001145715.2(KPNA7):c.106C>T (p.Arg36Ter) rs760378316
NM_001160036.2(RHOBTB2):c.1531C>T (p.Arg511Trp) rs1554504681
NM_001160301.1(DPYD):c.187A>G (p.Lys63Glu) rs367619008
NM_001160301.1(DPYD):c.220C>T (p.Arg74Ter) rs189768576
NM_001163213.1(FGFR3):c.746C>G (p.Ser249Cys) rs121913483
NM_001163817.2(DHCR7):c.1012G>A (p.Val338Met) rs72954276
NM_001163817.2(DHCR7):c.1328G>A (p.Arg443His) rs781687341
NM_001163817.2(DHCR7):c.1A>G (p.Met1Val) rs104886033
NM_001163817.2(DHCR7):c.725G>A (p.Arg242His) rs80338857
NM_001163817.2(DHCR7):c.89G>C (p.Gly30Ala) rs200334114
NM_001163817.2(DHCR7):c.964-1G>T rs138659167
NM_001165963.4(SCN1A):c.2792G>T (p.Arg931Leu)
NM_001165963.4(SCN1A):c.4723C>T (p.Arg1575Cys) rs121918807
NM_001166244.1(HPSE2):c.1291_1292del (p.Asn431fs) rs397515338
NM_001168407.2(RIMS1):c.1536-963del rs587783021
NM_001171.5(ABCC6):c.4209-2A>C rs1555506740
NM_001171.5(ABCC6):c.793A>G (p.Arg265Gly) rs72657698
NM_001174150.2(ARL13B):c.830dup (p.Asn277fs) rs752472169
NM_001182.5(ALDH7A1):c.1276A>G (p.Thr426Ala) rs150305320
NM_001184880.2(PCDH19):c.798C>G (p.Asp266Glu) rs369638371
NM_001193416.3(DDX3X):c.1595C>T (p.Thr532Met) rs1064795387
NM_001193416.3(DDX3X):c.1600C>T (p.Arg534Cys) rs1555954284
NM_001193466.2(KANSL1):c.808_809del (p.Leu270fs) rs551541795
NM_001193466.2(KANSL1):c.985_986del (p.Leu329fs) rs281865473
NM_001199107.2(TBC1D24):c.457G>A (p.Glu153Lys) rs376712059
NM_001199397.3(NEK1):c.1334A>G (p.His445Arg)
NM_001242897.2(DEPDC5):c.3030+3861C>T rs79027628
NM_001243279.3(ACSF3):c.1075G>A (p.Glu359Lys) rs150487794
NM_001244710.2(GFPT1):c.*22C>A rs199678034
NM_001256317.3(TMPRSS3):c.1273G>A (p.Ala425Thr) rs56264519
NM_001256545.2(MEGF10):c.2176G>A (p.Ala726Thr) rs139884665
NM_001258392.3(CLPB):c.1132A>G (p.Arg378Gly) rs144078282
NM_001258392.3(CLPB):c.1610A>G (p.Tyr537Cys) rs150857620
NM_001258392.3(CLPB):c.1792C>T (p.Arg598Cys) rs150343959
NM_001267550.2(TTN):c.100400T>G (p.Val33467Gly) rs200166942
NM_001267550.2(TTN):c.20341G>A (p.Glu6781Lys) rs72648958
NM_001267550.2(TTN):c.39044-9T>A rs184888200
NM_001267550.2(TTN):c.52948G>A (p.Ala17650Thr) rs535008556
NM_001267550.2(TTN):c.69821G>A (p.Gly23274Asp) rs201043950
NM_001267550.2(TTN):c.7523A>G (p.His2508Arg) rs146970027
NM_001271.4(CHD2):c.1937G>A (p.Gly646Glu) rs1567141162
NM_001271.4(CHD2):c.2699G>A (p.Arg900Gln) rs1567149946
NM_001271208.2(NEB):c.22905+9A>G rs144303545
NM_001271208.2(NEB):c.23011-6C>T rs1449487575
NM_001271208.2(NEB):c.23582A>G (p.Asn7861Ser) rs143602832
NM_001271208.2(NEB):c.23629C>T (p.Arg7877Cys) rs184516994
NM_001271208.2(NEB):c.23868G>C (p.Leu7956Phe) rs201028196
NM_001271208.2(NEB):c.24094C>T (p.Arg8032Ter) rs549794342
NM_001271208.2(NEB):c.3567+1G>A rs587780399
NM_001271208.2(NEB):c.3623T>C (p.Ile1208Thr) rs201141958
NM_001271208.2(NEB):c.6020T>C (p.Met2007Thr) rs199862790
NM_001271208.2(NEB):c.7228-1G>A rs1057516996
NM_001271208.2(NEB):c.9155G>A (p.Arg3052Gln) rs201176993
NM_001271938.2(MEGF8):c.3154T>C (p.Trp1052Arg) rs202039332
NM_001278074.1(COL5A1):c.406C>T (p.Pro136Ser) rs777625241
NM_001278716.2(FBXL4):c.1652T>A (p.Ile551Asn) rs1554215979
NM_001278716.2(FBXL4):c.1698A>G (p.Ile566Met) rs1554215959
NM_001278716.2(FBXL4):c.1790A>C (p.Gln597Pro) rs201989042
NM_001281463.1(SMC1A):c.3037C>T (p.Arg1013Ter) rs1556886124
NM_001281463.1(SMC1A):c.520C>T (p.Arg174Cys) rs587784422
NM_001289910.1(IDH2):c.263G>A (p.Arg88Gln) rs121913502
NM_001292034.3(TAB2):c.679C>T (p.Arg227Ter) rs1479104927
NM_001297.5(CNGB1):c.2957A>T (p.Asn986Ile) rs201162411
NM_001298.3(CNGA3):c.101+1G>A rs147118493
NM_001301365.1(LYST):c.10477T>C (p.Phe3493Leu) rs200511787
NM_001301365.1(LYST):c.4337G>A (p.Arg1446Gln) rs111722949
NM_001303052.2(MYT1L):c.1706G>A (p.Arg569Gln) rs878853045
NM_001317778.2(SFTPC):c.548G>A (p.Cys183Tyr)
NM_001319945.2(G6PC3):c.568C>T (p.Pro190Ser) rs377343204
NM_001323289.2(CDKL5):c.454T>C (p.Cys152Arg) rs1602272932
NM_001329943.3(KIAA0586):c.94dup (p.His32fs) rs555421894
NM_001330078.2(NRXN1):c.2533C>T (p.His845Tyr) rs199784139
NM_001330078.2(NRXN1):c.772+1078A>G rs144049982
NM_001330260.2(SCN8A):c.2549G>A (p.Arg850Gln)
NM_001346754.2(PIGW):c.533C>G (p.Ser178Cys) rs368008171
NM_001347721.2(DYRK1A):c.707T>G (p.Leu236Arg) rs797044525
NM_001351834.2(ATM):c.5631_5635delinsA (p.Phe1877fs) rs758852420
NM_001352514.2(HLCS):c.1974dup (p.Val659fs) rs767533946
NM_001353108.3(CEP63):c.790-2A>G
NM_001354604.2(MITF):c.1230G>A (p.Thr410=) rs1057521096
NM_001356.4(DDX3X):c.1052G>A (p.Arg351Gln) rs1057518707
NM_001358530.2(MOCS1):c.394C>T (p.Arg132Trp) rs377167949
NM_001358530.2(MOCS1):c.956G>A (p.Arg319Gln) rs104893969
NM_001360.2(DHCR7):c.1054C>T (p.Arg352Trp) rs80338860
NM_001360.2(DHCR7):c.1066del (p.His356fs) rs774291653
NM_001360.2(DHCR7):c.1139G>A (p.Cys380Tyr) rs779709646
NM_001360.2(DHCR7):c.1210C>T (p.Arg404Cys) rs61757582
NM_001360.2(DHCR7):c.1228G>A (p.Gly410Ser) rs80338862
NM_001360.2(DHCR7):c.1337G>A (p.Arg446Gln) rs751604696
NM_001360.2(DHCR7):c.1342G>A (p.Glu448Lys) rs80338864
NM_001360.2(DHCR7):c.1396G>A (p.Val466Met) rs760428437
NM_001360.2(DHCR7):c.292C>T (p.Gln98Ter) rs104886039
NM_001360.2(DHCR7):c.440G>A (p.Gly147Asp) rs777425801
NM_001360.2(DHCR7):c.461C>G (p.Thr154Arg) rs143312232
NM_001360.2(DHCR7):c.461C>T (p.Thr154Met) rs143312232
NM_001360.2(DHCR7):c.470T>C (p.Leu157Pro) rs753960624
NM_001360.2(DHCR7):c.506C>T (p.Ser169Leu) rs80338855
NM_001360.2(DHCR7):c.546G>A (p.Trp182Ter) rs1032242817
NM_001360.2(DHCR7):c.655T>G (p.Tyr219Asp) rs779896782
NM_001360.2(DHCR7):c.740C>T (p.Ala247Val) rs886041354
NM_001360.2(DHCR7):c.841G>A (p.Val281Met) rs398123607
NM_001360.2(DHCR7):c.866C>T (p.Thr289Ile) rs121909765
NM_001360.2(DHCR7):c.906C>G (p.Phe302Leu) rs80338858
NM_001360.2(DHCR7):c.907G>A (p.Gly303Arg) rs142808899
NM_001360.2(DHCR7):c.963+1G>T rs1057516973
NM_001360.2(DHCR7):c.976G>T (p.Val326Leu) rs80338859
NM_001360.3(DHCR7):c.452G>A (p.Trp151Ter) rs11555217
NM_001360.3(DHCR7):c.724C>T (p.Arg242Cys) rs80338856
NM_001360.3(DHCR7):c.964-1G>C rs138659167
NM_001363.4(DKC1):c.-142C>G rs199422241
NM_001363118.2(SLC52A2):c.-110-1G>A rs1554853682
NM_001363118.2(SLC52A2):c.1088C>T (p.Pro363Leu) rs797045202
NM_001364905.1(LRBA):c.1399A>G (p.Met467Val) rs116355217
NM_001364905.1(LRBA):c.194T>C (p.Ile65Thr) rs148385798
NM_001365536.1(SCN9A):c.2192T>A (p.Ile731Lys) rs200945460
NM_001366722.1(GRIP1):c.160G>A (p.Val54Ile) rs199768740
NM_001367561.1(DOCK7):c.1142A>G (p.Lys381Arg)
NM_001368809.2(AMPD2):c.1859G>A (p.Arg620His) rs587777395
NM_001369.2(DNAH5):c.5503C>T (p.Gln1835Ter) rs761622153
NM_001369369.1(FOXN1):c.1184C>T (p.Pro395Leu) rs199739943
NM_001369369.1(FOXN1):c.497C>T (p.Ala166Val) rs367793349
NM_001370466.1(NOD2):c.2291G>A (p.Arg764Gln) rs104895464
NM_001370466.1(NOD2):c.485C>T (p.Thr162Met) rs61755182
NM_001370658.1(BTD):c.908A>G (p.His303Arg) rs397507176
NM_001371986.1(UNC80):c.9760C>A (p.Gln3254Lys) rs189916631
NM_001377.3(DYNC2H1):c.7985G>A (p.Arg2662Gln) rs397514635
NM_001378452.1(ITPR1):c.800C>T (p.Thr267Met) rs797044955
NM_001378615.1(CC2D2A):c.4531T>C (p.Trp1511Arg)
NM_001429.4(EP300):c.2660C>T (p.Thr887Ile)
NM_001481.3(GAS8):c.841G>C (p.Asp281His) rs139167960
NM_001497.4(B4GALT1):c.61C>T (p.Arg21Trp)
NM_001556.3(IKBKB):c.887C>T (p.Pro296Leu)
NM_001605.2(AARS1):c.2580G>A (p.Leu860=) rs145581652
NM_001609.3(ACADSB):c.1159G>A (p.Glu387Lys) rs188094280
NM_001609.3(ACADSB):c.443C>T (p.Thr148Ile) rs58639322
NM_001609.4(ACADSB):c.621G>A (p.Trp207Ter) rs374420253
NM_001625.4(AK2):c.202A>G (p.Met68Val) rs548856916
NM_001625.4(AK2):c.386G>A (p.Ser129Asn) rs61750965
NM_001625.4(AK2):c.49C>G (p.Arg17Gly) rs138577419
NM_001673.5(ASNS):c.1364C>T (p.Ser455Phe) rs61733327
NM_001756.4(SERPINA6):c.1165G>A (p.Asp389Asn) rs28929488
NM_001759.4(CCND2):c.839C>T (p.Thr280Ile) rs587777620
NM_001768.7(CD8A):c.188C>G (p.Ala63Gly)
NM_001783.3(CD79A):c.419C>A (p.Thr140Asn) rs148797987
NM_001845.6(COL4A1):c.2086G>A (p.Gly696Ser) rs587780588
NM_001854.4(COL11A1):c.3384+13T>G
NM_001863.5(COX6B1):c.58C>T (p.Arg20Cys) rs778740017
NM_001876.4(CPT1A):c.1163+1G>A rs148059333
NM_002016.1(FLG):c.1501C>T (p.Arg501Ter) rs61816761
NM_002016.2(FLG):c.2282_2285del (p.Ser761fs) rs558269137
NM_002055.5(GFAP):c.197G>A (p.Arg66Gln) rs797044569
NM_002074.5(GNB1):c.233A>G (p.Lys78Arg) rs869312823
NM_002185.5(IL7R):c.339A>C (p.Glu113Asp) rs11567735
NM_002187.2(IL12B):c.660T>A (p.Tyr220Ter) rs748215576
NM_002225.5(IVD):c.1179del (p.Leu394fs) rs786204613
NM_002225.5(IVD):c.1183C>T (p.Arg395Ter) rs398123681
NM_002225.5(IVD):c.1199A>G (p.Tyr400Cys) rs773560012
NM_002225.5(IVD):c.148C>T (p.Arg50Cys) rs34695403
NM_002225.5(IVD):c.149G>C (p.Arg50Pro) rs2229311
NM_002225.5(IVD):c.232C>T (p.Arg78Ter) rs765815516
NM_002225.5(IVD):c.358G>A (p.Gly120Arg) rs142761835
NM_002225.5(IVD):c.498del (p.Glu166fs) rs398123684
NM_002225.5(IVD):c.550+1G>A rs377147994
NM_002225.5(IVD):c.599del (p.Pro200fs) rs1566936542
NM_002225.5(IVD):c.851G>A (p.Arg284Gln) rs373534546
NM_002225.5(IVD):c.870dup (p.Pro291fs) rs759159766
NM_002225.5(IVD):c.960G>T (p.Gln320His) rs367814475
NM_002233.4(KCNA4):c.266G>A (p.Arg89Gln) rs779101828
NM_002241.5(KCNJ10):c.889C>T (p.Arg297Cys) rs137853071
NM_002281.4(KRT81):c.846T>A (p.Tyr282Ter) rs138597671
NM_002397.5(MEF2C):c.137T>A (p.Ile46Asn)
NM_002435.3(MPI):c.656G>A (p.Arg219Gln) rs104894489
NM_002437.5(MPV17):c.122G>A (p.Arg41Gln) rs140992482
NM_002474.3(MYH11):c.5499G>C (p.Glu1833Asp) rs145252402
NM_002485.5(NBN):c.584+2T>C rs1586101154
NM_002485.5(NBN):c.628G>T (p.Val210Phe) rs61754796
NM_002591.4(PCK1):c.7C>T (p.Pro3Ser) rs147120329
NM_002691.4(POLD1):c.2185G>A (p.Glu729Lys) rs200931999
NM_002693.2(POLG):c.1156C>T (p.Arg386Cys) rs199759055
NM_002693.2(POLG):c.131A>G (p.Gln44Arg) rs757120802
NM_002693.2(POLG):c.1402A>G (p.Asn468Asp) rs145843073
NM_002693.2(POLG):c.3436C>T (p.Arg1146Cys) rs2307440
NM_002693.3(POLG):c.2209G>C (p.Gly737Arg) rs121918054
NM_002693.3(POLG):c.3286C>T rs201732356
NM_002743.3(PRKCSH):c.416G>A (p.Arg139His) rs139991238
NM_002834.4(PTPN11):c.179G>T (p.Gly60Val) rs397507509
NM_002834.4(PTPN11):c.226G>A (p.Glu76Lys) rs121918464
NM_002834.5(PTPN11):c.215C>G (p.Ala72Gly) rs121918454
NM_002834.5(PTPN11):c.836A>G (p.Tyr279Cys) rs121918456
NM_002834.5(PTPN11):c.922A>G (p.Asn308Asp) rs28933386
NM_002838.5(PTPRC):c.2142+7A>G rs764731559
NM_002857.3(PEX19):c.16G>A (p.Glu6Lys) rs145845197
NM_002863.5(PYGL):c.1145C>T (p.Pro382Leu) rs143759519
NM_002863.5(PYGL):c.1768+1G>A rs113993982
NM_002887.4(RARS1):c.1535G>A (p.Arg512Gln) rs369398935
NM_002968.3(SALL1):c.2050C>T (p.Gln684Ter) rs1597229404
NM_003036.4(SKI):c.103C>T (p.Pro35Ser) rs397514590
NM_003042.4(SLC6A1):c.131G>A (p.Arg44Gln) rs794726859
NM_003060.4(SLC22A5):c.1084del (p.Ser362fs) rs1580892239
NM_003060.4(SLC22A5):c.1195C>T (p.Arg399Trp) rs267607054
NM_003060.4(SLC22A5):c.136C>T (p.Pro46Ser) rs202088921
NM_003060.4(SLC22A5):c.1400C>G (p.Ser467Cys) rs60376624
NM_003060.4(SLC22A5):c.248G>T (p.Arg83Leu) rs72552726
NM_003060.4(SLC22A5):c.34G>A (p.Gly12Ser) rs139203363
NM_003060.4(SLC22A5):c.364G>T (p.Asp122Tyr) rs201082652
NM_003060.4(SLC22A5):c.641C>T (p.Ala214Val) rs386134199
NM_003060.4(SLC22A5):c.680G>A (p.Arg227His) rs185551386
NM_003073.5(SMARCB1):c.110G>A (p.Arg37His) rs398122368
NM_003119.2(SPG7):c.1529C>T rs61755320
NM_003119.4(SPG7):c.1045G>A (p.Gly349Ser) rs141659620
NM_003119.4(SPG7):c.1948G>A (p.Asp650Asn) rs769602042
NM_003122.4(SPINK1):c.101A>G (p.Asn34Ser) rs17107315
NM_003190.4(TAPBP):c.845del (p.Val282fs) rs765712832
NM_003221.4(TFAP2B):c.824C>A (p.Ala275Asp) rs80338914
NM_003227.4(TFR2):c.2014C>T (p.Gln672Ter) rs1051249273
NM_003238.5(TGFB2):c.356C>T (p.Pro119Leu) rs149533093
NM_003309.4(TSPYL1):c.725_726del (p.Val242fs) rs775957625
NM_003384.3(VRK1):c.266G>A (p.Arg89Gln) rs773138218
NM_003384.3(VRK1):c.961C>T (p.Arg321Cys) rs772731615
NM_003392.4(WNT5A):c.206G>A (p.Cys69Tyr) rs786204837
NM_003392.7(WNT5A):c.461G>T (p.Cys154Phe)
NM_003394.4(WNT10B):c.338-1G>C rs1163162816
NM_003482.3(KMT2D):c.15142C>T (p.Arg5048Cys) rs398123724
NM_003491.4(NAA10):c.215T>C (p.Ile72Thr) rs1057519448
NM_003560.4(PLA2G6):c.1427+1G>A rs750939090
NM_003560.4(PLA2G6):c.2370T>G (p.Tyr790Ter) rs121908680
NM_003619.4(PRSS12):c.2488_2489del (p.Met830fs) rs560855452
NM_003721.4(RFXANK):c.362A>T (p.Asp121Val) rs104894709
NM_003721.4(RFXANK):c.713-1G>A
NM_003738.5(PTCH2):c.1172_1173del (p.Phe390_Ser391insTer) rs56126236
NM_003738.5(PTCH2):c.2902G>A (p.Val968Ile) rs200873074
NM_003738.5(PTCH2):c.311T>C (p.Leu104Pro) rs80168454
NM_003742.4(ABCB11):c.3457C>T (p.Arg1153Cys) rs72549395
NM_003748.4(ALDH4A1):c.866+1G>A rs78532707
NM_003754.3(EIF3F):c.694T>G (p.Phe232Val) rs141976414
NM_003850.2(SUCLA2):c.49C>G (p.Arg17Gly) rs200124902
NM_003896.4(ST3GAL5):c.1063G>A (p.Glu355Lys) rs534438354
NM_003896.4(ST3GAL5):c.82+1G>C rs878854615
NM_003906.5(MCM3AP):c.3814G>A (p.Val1272Met) rs779248881
NM_003924.4(PHOX2B):c.785G>T (p.Gly262Val) rs768420488
NM_003977.4(AIP):c.807C>T (p.Phe269=) rs139407567
NM_004004.6(GJB2):c.131G>A (p.Trp44Ter) rs104894413
NM_004004.6(GJB2):c.235del (p.Leu79fs) rs80338943
NM_004004.6(GJB2):c.269T>C (p.Leu90Pro) rs80338945
NM_004004.6(GJB2):c.478G>A (p.Gly160Ser) rs34988750
NM_004006.2(DMD):c.4233+2C>T rs147474070
NM_004064.4(CDKN1B):c.356T>C (p.Ile119Thr) rs142833529
NM_004092.4(ECHS1):c.538A>G (p.Thr180Ala) rs557128093
NM_004278.4(PIGL):c.500T>C (p.Leu167Pro) rs145303331
NM_004281.3(BAG3):c.626C>T (p.Pro209Leu) rs121918312
NM_004291.4(CARTPT):c.183G>C (p.Leu61Phe) rs121909065
NM_004304.5(ALK):c.4796C>A (p.Pro1599His) rs1881423
NM_004320.5(ATP2A1):c.100G>T (p.Glu34Ter) rs141559558
NM_004321.7(KIF1A):c.38G>A (p.Arg13His) rs797045050
NM_004321.7(KIF1A):c.647G>C (p.Arg216Pro) rs672601368
NM_004321.7(KIF1A):c.947G>A (p.Arg316Gln) rs749718096
NM_004380.3(CREBBP):c.3832G>A (p.Glu1278Lys) rs267606752
NM_004519.4(KCNQ3):c.689G>A (p.Arg230His)
NM_004525.3(LRP2):c.11092G>A (p.Val3698Met) rs34355135
NM_004562.3(PRKN):c.535-9T>A rs201039350
NM_004577.4(PSPH):c.94G>A (p.Asp32Asn) rs104894035
NM_004614.5(TK2):c.323C>T (p.Thr108Met) rs137854431
NM_004614.5(TK2):c.361C>A (p.His121Asn) rs137854429
NM_004614.5(TK2):c.547C>T (p.Arg183Trp) rs137886900
NM_004628.4(XPC):c.1872+1G>C rs1559374923
NM_004629.1(FANCG):c.1480+1G>C rs149616199
NM_004646.3(NPHS1):c.1701C>A (p.Cys567Ter) rs386833887
NM_004646.3(NPHS1):c.2398C>T (p.Arg800Cys) rs114896482
NM_004646.3(NPHS1):c.2606_2607dup (p.Asn870fs) rs386833921
NM_004646.3(NPHS1):c.2663+2T>G rs762392183
NM_004655.4(AXIN2):c.1404CCA[7] (p.His474dup) rs570443161
NM_004655.4(AXIN2):c.1685C>T (p.Pro562Leu) rs149764887
NM_004722.4(AP4M1):c.1140G>A (p.Met380Ile) rs574878636
NM_004722.4(AP4M1):c.333A>C (p.Glu111Asp) rs138437966
NM_004946.3(DOCK2):c.1360G>A (p.Ala454Thr) rs114888195
NM_004946.3(DOCK2):c.2939T>C (p.Ile980Thr) rs148694888
NM_004975.4(KCNB1):c.629C>T (p.Thr210Met) rs1555889162
NM_004975.4(KCNB1):c.737T>G (p.Leu246Arg) rs1601071839
NM_004985.5(KRAS):c.13A>G (p.Lys5Glu) rs193929331
NM_004991.4(MECOM):c.2812C>T (p.Arg938Trp) rs864309724
NM_005006.7(NDUFS1):c.721C>T (p.Arg241Trp) rs199422225
NM_005027.4(PIK3R2):c.1117G>A (p.Gly373Arg) rs587776934
NM_005051.3(QARS1):c.477G>A (p.Trp159Ter)
NM_005052.3(RAC3):c.176C>G (p.Ala59Gly) rs1379395211
NM_005105.5(RBM8A):c.-21G>A rs139428292
NM_005120.3(MED12):c.2881C>T (p.Arg961Trp) rs80338758
NM_005120.3(MED12):c.4864-6C>T rs1018026145
NM_005188.3(CBL):c.1112A>C (p.Tyr371Ser) rs387906666
NM_005188.4(CBL):c.1228-2A>G rs727504426
NM_005198.4(CHKB):c.1031+3G>C rs751176079
NM_005214.5(CTLA4):c.208C>T (p.Arg70Trp) rs606231422
NM_005249.5(FOXG1):c.565C>G (p.Leu189Val) rs1555321308
NM_005373.3(MPL):c.79+2T>A rs146249964
NM_005419.4(STAT2):c.903C>T (p.Asn301=) rs145152331
NM_005476.7(GNE):c.2086G>A (p.Val696Met) rs121908627
NM_005476.7(GNE):c.647T>C (p.Val216Ala) rs779694939
NM_005502.4(ABCA1):c.3542C>T (p.Ser1181Phe) rs76881554
NM_005529.7(HSPG2):c.12884G>A (p.Arg4295Gln) rs537908254
NM_005529.7(HSPG2):c.2357A>G (p.Asn786Ser) rs143736974
NM_005529.7(HSPG2):c.4916C>T (p.Thr1639Met) rs142433309
NM_005591.3(MRE11):c.1643T>C (p.Ile548Thr) rs373522639
NM_005591.4(MRE11):c.1475C>A (p.Ala492Asp) rs61749249
NM_005677.4(COLQ):c.379C>T (p.Arg127Ter) rs143766249
NM_005710.2(PQBP1):c.586C>T (p.Arg196Ter) rs1557041672
NM_005767.6(LPAR6):c.436G>A (p.Gly146Arg) rs121434308
NM_005787.6(ALG3):c.1084G>A (p.Val362Ile) rs186946267
NM_005797.4(MPZL2):c.72del (p.Ile24fs) rs752672077
NM_005859.5(PURA):c.493G>A (p.Gly165Ser) rs1561793272
NM_005862.3(STAG1):c.1118G>A (p.Arg373Gln) rs1376334317
NM_005912.3(MC4R):c.485C>T (p.Thr162Ile) rs1555691402
NM_005933.4(KMT2A):c.3464G>A (p.Cys1155Tyr) rs1057518074
NM_005956.4(MTHFD1):c.146C>T (p.Ser49Phe) rs370444838
NM_005984.5(SLC25A1):c.517_526del (p.Arg173fs) rs483352911
NM_005993.5(TBCD):c.2314C>T (p.Arg772Cys) rs181969865
NM_006009.4(TUBA1A):c.641G>A (p.Arg214His) rs1057517843
NM_006009.4(TUBA1A):c.791G>A (p.Arg264His) rs886043627
NM_006031.6(PCNT):c.5767C>T (p.Arg1923Ter) rs119479062
NM_006086.4(TUBB3):c.785G>A (p.Arg262His) rs864321716
NM_006096.4(NDRG1):c.944-1G>T rs1588216753
NM_006208.3(ENPP1):c.1441C>T (p.Arg481Trp) rs373044722
NM_006218.4(PIK3CA):c.2740G>A (p.Gly914Arg) rs587776932
NM_006231.3(POLE):c.155G>A (p.Arg52Gln) rs372459649
NM_006231.3(POLE):c.3698G>A (p.Arg1233Gln) rs201738371
NM_006245.4(PPP2R5D):c.632A>C (p.Gln211Pro)
NM_006261.4(PROP1):c.358C>T (p.Arg120Cys) rs121917839
NM_006267.5(RANBP2):c.3363G>T (p.Lys1121Asn) rs112835359
NM_006397.2(RNASEH2A):c.557G>A (p.Arg186Gln) rs753679297
NM_006432.4(NPC2):c.190+5G>A rs80358268
NM_006432.4(NPC2):c.58G>T (p.Glu20Ter) rs80358260
NM_006446.5(SLCO1B1):c.1925_1929del (p.Ile642fs)
NM_006493.4(CLN5):c.-146T>C rs201615354
NM_006493.4(CLN5):c.188G>A (p.Arg63His) rs104894386
NM_006493.4(CLN5):c.525del (p.His174_Trp175insTer) rs587780315
NM_006567.5(FARS2):c.1082C>T (p.Pro361Leu) rs751459058
NM_006612.6(KIF1C):c.2099C>T (p.Pro700Leu) rs148934699
NM_006612.6(KIF1C):c.2734C>T (p.Arg912Trp) rs202232792
NM_006618.5(KDM5B):c.895C>T (p.Arg299Ter) rs1558498928
NM_006623.4(PHGDH):c.1030C>T (p.Arg344Ter) rs769256568
NM_006755.2(TALDO1):c.574C>T (p.Arg192Cys) rs751425603
NM_006772.3(SYNGAP1):c.1724G>A (p.Arg575His)
NM_006772.3(SYNGAP1):c.1898T>C (p.Leu633Pro)
NM_006772.3(SYNGAP1):c.3913A>G (p.Thr1305Ala) rs749376396
NM_006772.3(SYNGAP1):c.4003G>A (p.Gly1335Ser)
NM_006785.4(MALT1):c.649+9C>T rs200919386
NM_006859.4(LIAS):c.76A>G (p.Arg26Gly)
NM_006891.4(CRYGD):c.168C>G (p.Tyr56Ter) rs202233735
NM_006904.6(PRKDC):c.422C>G (p.Ser141Cys) rs201231274
NM_006904.6(PRKDC):c.5120T>A (p.Leu1707Gln) rs202110076
NM_006912.6(RIT1):c.229G>A (p.Ala77Thr) rs869025191
NM_006922.4(SCN3A):c.2624T>C (p.Ile875Thr) rs1057518801
NM_006940.6(SOX5):c.1411C>T (p.Arg471Ter) rs1592099852
NM_006946.4(SPTBN2):c.1973G>A (p.Arg658Gln)
NM_006949.4(STXBP2):c.49G>A (p.Gly17Arg) rs146165014
NM_007055.4(POLR3A):c.1771-7C>G rs201314157
NM_007055.4(POLR3A):c.1909+22G>A rs191875469
NM_007074.3(CORO1A):c.1189G>A (p.Val397Ile) rs35967690
NM_007103.4(NDUFV1):c.1268C>T (p.Thr423Met) rs121913659
NM_007103.4(NDUFV1):c.166T>C (p.Ser56Pro) rs201727685
NM_007126.5(VCP):c.*4G>T rs201091341
NM_007126.5(VCP):c.1584C>T (p.Ala528=) rs147623367
NM_007194.4(CHEK2):c.1100del (p.Thr367fs) rs555607708
NM_007254.4(PNKP):c.1029+2T>C rs199919568
NM_007272.3(CTRC):c.649G>A (p.Gly217Ser) rs202058123
NM_007294.3(BRCA1):c.5266dupC (p.Gln1756Profs) rs80357906
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709
NM_007294.4(BRCA1):c.3113A>G (p.Glu1038Gly) rs16941
NM_007294.4(BRCA1):c.68_69del (p.Glu23fs) rs80357914
NM_007315.3(STAT1):c.1727+13G>A rs377146580
NM_007315.3(STAT1):c.633+6T>A rs45459703
NM_007327.4(GRIN1):c.1858G>C (p.Gly620Arg) rs797045047
NM_007327.4(GRIN1):c.2479G>A (p.Gly827Arg) rs1451230055
NM_007327.4(GRIN1):c.448G>A (p.Val150Met)
NM_007373.4(SHOC2):c.4A>G (p.Ser2Gly) rs267607048
NM_012062.5(DNM1L):c.1048G>A (p.Gly350Arg) rs879255689
NM_012073.5(CCT5):c.166+8del rs773556943
NM_012203.2(GRHPR):c.103del (p.Asp35fs) rs80356708
NM_012434.5(SLC17A5):c.1001C>G (p.Pro334Arg) rs119491110
NM_012434.5(SLC17A5):c.1016G>A (p.Trp339Ter) rs1057516910
NM_012434.5(SLC17A5):c.1138_1139del (p.Val380fs) rs386833988
NM_012434.5(SLC17A5):c.533del (p.Thr178fs) rs727504156
NM_012434.5(SLC17A5):c.802_816del (p.Ser268_Asn272del) rs386833994
NM_012448.3(STAT5B):c.1924A>C (p.Asn642His) rs938448224
NM_012452.2(TNFRSF13B):c.260T>A (p.Ile87Asn) rs72553877
NM_012452.2(TNFRSF13B):c.310T>C (p.Cys104Arg) rs34557412
NM_012452.3(TNFRSF13B):c.593G>A (p.Arg198His) rs150974807
NM_012452.3(TNFRSF13B):c.61+2T>A
NM_012463.4(ATP6V0A2):c.353_354del (p.Leu118fs) rs80356752
NM_012479.4(YWHAG):c.394C>T (p.Arg132Cys) rs1554616628
NM_013339.4(ALG6):c.257+5G>A rs199682486
NM_013339.4(ALG6):c.680G>A (p.Gly227Glu) rs372079206
NM_013352.4(DSE):c.1961G>A (p.Arg654Gln) rs61741781
NM_014049.5(ACAD9):c.1022T>C (p.Leu341Ser) rs141874052
NM_014159.7(SETD2):c.19C>T (p.Gln7Ter) rs541943893
NM_014159.7(SETD2):c.5218C>T (p.Arg1740Trp) rs1057523157
NM_014171.6(CRIPT):c.8G>A (p.Cys3Tyr) rs757078301
NM_014233.4(UBTF):c.628G>A (p.Glu210Lys) rs1555582065
NM_014239.4(EIF2B2):c.599G>T (p.Gly200Val) rs113994012
NM_014244.5(ADAMTS2):c.139+4G>A rs1023653032
NM_014252.4(SLC25A15):c.815C>T (p.Thr272Ile) rs121908535
NM_014339.6(IL17RA):c.1174G>T (p.Val392Leu) rs146478431
NM_014339.7(IL17RA):c.1232C>T (p.Ala411Val) rs151166583
NM_014362.4(HIBCH):c.365A>G (p.Tyr122Cys) rs121918329
NM_014362.4(HIBCH):c.410C>T (p.Ala137Val) rs1114167288
NM_014363.6(SACS):c.10008A>G (p.Lys3336=) rs148971954
NM_014363.6(SACS):c.2580A>G (p.Gln860=) rs41283958
NM_014363.6(SACS):c.8393C>A (p.Pro2798Gln) rs140551762
NM_014384.2(ACAD8):c.1129G>A (p.Gly377Ser) rs121908419
NM_014384.2(ACAD8):c.988C>T (p.Arg330Trp) rs121908420
NM_014679.5(CEP57):c.677G>A (p.Arg226His) rs143711180
NM_014679.5(CEP57):c.764A>G (p.Asn255Ser) rs768269976
NM_014762.4(DHCR24):c.281G>A (p.Arg94His) rs387906939
NM_014795.4(ZEB2):c.219C>T (p.His73=) rs778851716
NM_014844.5(TECPR2):c.623C>T (p.Thr208Ile) rs144870163
NM_014855.3(AP5Z1):c.1573A>C (p.Lys525Gln) rs186003800
NM_014855.3(AP5Z1):c.481G>A (p.Val161Met) rs191971593
NM_014874.3(MFN2):c.2119C>T (p.Arg707Trp) rs119103267
NM_014915.2(ANKRD26):c.4636G>C (p.Asp1546His) rs753924410
NM_014946.4(SPAST):c.1496G>A rs878854991
NM_014946.4(SPAST):c.878C>T (p.Pro293Leu)
NM_015120.4(ALMS1):c.12007C>T (p.Arg4003Trp) rs200897773
NM_015120.4(ALMS1):c.8448A>G (p.Ser2816=) rs137932254
NM_015166.3(MLC1):c.274C>T (p.Pro92Ser) rs121908345
NM_015166.3(MLC1):c.321+1G>A rs765879182
NM_015166.3(MLC1):c.65G>A (p.Arg22Gln) rs184241759
NM_015338.5(ASXL1):c.1934dup (p.Gly646fs) rs750318549
NM_015386.3(COG4):c.2251G>A (p.Asp751Asn) rs200083914
NM_015506.2(MMACHC):c.271dupA rs398124292
NM_015506.3(MMACHC):c.347T>C (p.Leu116Pro) rs121918240
NM_015506.3(MMACHC):c.382TAC[2] (p.Tyr130del) rs796051998
NM_015506.3(MMACHC):c.388T>C (p.Tyr130His) rs372670428
NM_015506.3(MMACHC):c.389A>G (p.Tyr130Cys) rs200094982
NM_015506.3(MMACHC):c.440G>A (p.Gly147Asp) rs140522266
NM_015506.3(MMACHC):c.440G>C (p.Gly147Ala) rs140522266
NM_015506.3(MMACHC):c.445_446del (p.Cys149fs) rs796051999
NM_015506.3(MMACHC):c.467G>A (p.Gly156Asp) rs1553162910
NM_015506.3(MMACHC):c.497dup (p.Pro167fs) rs1481893137
NM_015506.3(MMACHC):c.578T>C (p.Leu193Pro) rs1233135084
NM_015506.3(MMACHC):c.617G>C (p.Arg206Pro) rs371753672
NM_015506.3(MMACHC):c.766_771del (p.Ala256_Pro257del) rs796064513
NM_015506.3(MMACHC):c.89G>A (p.Trp30Ter) rs1570829502
NM_015506.3(MMACHC):c.90G>A (p.Trp30Ter) rs771673343
NM_015560.2(OPA1):c.1146A>G (p.Ile382Met) rs143319805
NM_015697.8(COQ2):c.590G>A (p.Arg197His) rs121918231
NM_015713.5(RRM2B):c.662A>G (p.Asn221Ser) rs863224193
NM_015721.3(GEMIN4):c.2452T>C (p.Trp818Arg) rs730882219
NM_015909.4(NBAS):c.409C>T (p.Arg137Trp) rs368085185
NM_015910.7(WDPCP):c.160G>A (p.Asp54Asn) rs200322968
NM_015971.4(MRPS7):c.550A>G (p.Met184Val) rs115047866
NM_016035.5(COQ4):c.370G>A (p.Gly124Ser) rs776825296
NM_016035.5(COQ4):c.458C>T (p.Ala153Val)
NM_016038.4(SBDS):c.258+2T>C rs113993993
NM_016042.4(EXOSC3):c.395A>C (p.Asp132Ala) rs141138948
NM_016156.5(MTMR2):c.826G>T (p.Glu276Ter) rs121434403
NM_016219.5(MAN1B1):c.1897G>T (p.Val633Phe) rs777270726
NM_016222.4(DDX41):c.415_418dup (p.Asp140delinsGlyTer) rs762890562
NM_016302.3(CRBN):c.1171T>C (p.Cys391Arg) rs797045036
NM_016327.3(UPB1):c.209G>C (p.Arg70Pro) rs121908066
NM_016327.3(UPB1):c.917-1G>A rs143493067
NM_016616.5(NME8):c.1600C>T (p.Arg534Ter) rs142525551
NM_016824.5(ADD3):c.1100G>A (p.Gly367Asp) rs564185858
NM_016953.4(PDE11A):c.985C>T (p.Arg329Ter) rs188985665
NM_017534.6(MYH2):c.1160C>T (p.Ala387Val) rs527337606
NM_017613.4(DONSON):c.1047-9A>G rs779149681
NM_017668.3(NDE1):c.872C>T (p.Ser291Phe) rs146284370
NM_017739.3(POMGNT1):c.1298C>T (p.Thr433Met) rs146097254
NM_017739.3(POMGNT1):c.1324C>T (p.Arg442Cys) rs28940869
NM_017890.4(VPS13B):c.1248G>T (p.Gln416His) rs143024324
NM_017890.4(VPS13B):c.1559A>G (p.His520Arg) rs143205296
NM_017890.4(VPS13B):c.3427C>T (p.Arg1143Ter) rs386834080
NM_017890.4(VPS13B):c.6732+1G>A rs180177366
NM_017890.4(VPS13B):c.6802G>T (p.Glu2268Ter) rs146960401
NM_017890.4(VPS13B):c.934A>G (p.Thr312Ala)
NM_017909.3(RMND1):c.713A>G rs144972972
NM_017946.4(FKBP14):c.362dup (p.Glu122fs) rs542489955
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_018055.5(NODAL):c.778G>A (p.Gly260Arg) rs121909283
NM_018082.5(POLR3B):c.1568T>A rs138249161
NM_018100.4(EFHC1):c.1612C>T (p.Arg538Ter) rs149998588
NM_018127.7(ELAC2):c.2342G>A (p.Arg781His) rs119484086
NM_018136.5(ASPM):c.3811C>T (p.Arg1271Ter) rs140602858
NM_018196.4(TMLHE):c.961_962del (p.Ile321fs) rs782624357
NM_018328.4(MBD5):c.3389T>C (p.Ile1130Thr) rs748142226
NM_018389.4(SLC35C1):c.748G>A (p.Gly250Arg) rs148606857
NM_018486.3(HDAC8):c.356C>T (p.Thr119Met) rs587779380
NM_018706.5(DHTKD1):c.2185G>A rs117225135
NM_018941.3(CLN8):c.209G>A (p.Arg70His) rs386834124
NM_018941.3(CLN8):c.374A>G (p.Asn125Ser) rs142269885
NM_019098.4(CNGB3):c.607C>T (p.Arg203Ter) rs267606739
NM_019844.4(SLCO1B3):c.853_856del (p.Lys285fs) rs554933268
NM_019892.6(INPP5E):c.623C>T (p.Thr208Ile) rs143107549
NM_020041.3(SLC2A9):c.1138C>T (p.Arg380Trp) rs121908321
NM_020070.4(IGLL1):c.334G>A (p.Ala112Thr) rs149986237
NM_020070.4(IGLL1):c.421del (p.Tyr141fs)
NM_020117.11(LARS1):c.1292T>A (p.Val431Asp) rs150429680
NM_020320.5(RARS2):c.1026G>A (p.Met342Ile) rs34647222
NM_020320.5(RARS2):c.442A>G (p.Thr148Ala) rs143389605
NM_020361.5(CPA6):c.619C>G (p.Gln207Glu) rs35993949
NM_020361.5(CPA6):c.799G>A (p.Gly267Arg) rs61738009
NM_020442.6(VARS2):c.1400G>A (p.Arg467His)
NM_020451.3(SELENON):c.943G>A (p.Gly315Ser) rs121908188
NM_020458.4(TTC7A):c.1433T>C (p.Leu478Pro) rs201100272
NM_020458.4(TTC7A):c.211G>A (p.Glu71Lys) rs147914967
NM_020458.4(TTC7A):c.2495C>T (p.Ala832Val) rs755985958
NM_020533.3(MCOLN1):c.1084G>T (p.Asp362Tyr) rs121908372
NM_020533.3(MCOLN1):c.694A>C (p.Thr232Pro) rs767122713
NM_020533.3(MCOLN1):c.964C>T (p.Arg322Ter) rs121908371
NM_020533.3(MCOLN1):c.984+1G>A rs767950930
NM_020549.4(CHAT):c.665G>C (p.Arg222Pro) rs8178989
NM_020708.5(SLC12A5):c.887G>A (p.Arg296His) rs114371269
NM_020732.3(ARID1B):c.4110G>A (p.Pro1370=) rs797045277
NM_020745.4(AARS2):c.1162C>T (p.Pro388Ser) rs139372744
NM_020779.4(WDR35):c.206G>A (p.Gly69Asp) rs765513105
NM_020779.4(WDR35):c.3058C>T (p.His1020Tyr) rs1553316264
NM_020779.4(WDR35):c.3170A>G (p.Tyr1057Cys) rs541910371
NM_020822.3(KCNT1):c.1066C>T (p.Arg356Trp) rs752514808
NM_020822.3(KCNT1):c.1421G>A (p.Arg474His)
NM_020921.3(NIN):c.5126A>G (p.Asn1709Ser) rs387907308
NM_020937.4(FANCM):c.5791C>T (p.Arg1931Ter) rs144567652
NM_020964.3(EPG5):c.4751T>A (p.Leu1584Ter) rs1568133760
NM_021008.3(DEAF1):c.634G>A (p.Gly212Ser) rs1057519565
NM_021008.3(DEAF1):c.676C>T (p.Arg226Trp) rs587777623
NM_021008.3(DEAF1):c.791A>C (p.Gln264Pro) rs587777407
NM_021008.4(DEAF1):c.700T>A (p.Trp234Arg) rs1057524157
NM_021008.4(DEAF1):c.910AAG[1] (p.Lys305del) rs1554943158
NM_021067.5(GINS1):c.247C>T (p.Arg83Cys) rs137901350
NM_021629.4(GNB4):c.204-4C>G rs377746889
NM_021729.5(VPS11):c.2536T>G (p.Cys846Gly) rs34757931
NM_021922.3(FANCE):c.1333C>T rs141551053
NM_021942.6(TRAPPC11):c.2147C>G (p.Ala716Gly) rs143990563
NM_021942.6(TRAPPC11):c.3400T>C (p.Ter1134Arg) rs142222368
NM_021957.4(GYS2):c.1553A>C (p.Glu518Ala) rs150433001
NM_022041.3(GAN):c.1268T>C (p.Ile423Thr) rs119485091
NM_022124.6(CDH23):c.1282G>A (p.Asp428Asn) rs188376296
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260
NM_022132.5(MCCC2):c.577C>T (p.Arg193Cys) rs547662164
NM_022445.4(TPK1):c.426G>C (p.Leu142Phe) rs769525399
NM_022445.4(TPK1):c.501+4A>T rs375169579
NM_023035.3(CACNA1A):c.4186G>A (p.Val1396Met) rs794727411
NM_023073.3(CPLANE1):c.8300-1G>C rs151279194
NM_023110.2(FGFR1):c.1880G>C (p.Arg627Thr) rs869025671
NM_023936.2(MRPS34):c.94C>T (p.Gln32Ter) rs763672163
NM_024079.5(ALG8):c.1211C>T (p.Ser404Leu) rs146603801
NM_024079.5(ALG8):c.478+1G>A rs139832787
NM_024120.5(NDUFAF5):c.821T>A (p.Leu274Gln) rs1040187200
NM_024312.5(GNPTAB):c.3335+6T>G rs34788341
NM_024312.5(GNPTAB):c.3503_3504del (p.Leu1168fs) rs34002892
NM_024339.5(THOC6):c.298T>A (p.Trp100Arg) rs138632121
NM_024339.5(THOC6):c.569G>A (p.Gly190Glu) rs199795381
NM_024339.5(THOC6):c.700G>C (p.Val234Leu) rs150940923
NM_024339.5(THOC6):c.824G>A (p.Gly275Asp) rs200426926
NM_024537.4(CARS2):c.1448T>G (p.Leu483Trp) rs766266851
NM_024537.4(CARS2):c.1632C>A (p.Ser544Arg) rs141184379
NM_024537.4(CARS2):c.302G>A (p.Arg101Gln) rs112070421
NM_024599.5(RHBDF2):c.2452G>A (p.Ala818Thr) rs770206566
NM_024649.5(BBS1):c.1169T>G (p.Met390Arg) rs113624356
NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter) rs768443448
NM_024649.5(BBS1):c.1553T>C (p.Leu518Pro) rs121917778
NM_024649.5(BBS1):c.442G>A (p.Asp148Asn) rs200688985
NM_024649.5(BBS1):c.831-3C>G rs113994179
NM_024649.5(BBS1):c.951+58C>T
NM_024665.6(TBL1XR1):c.974G>A (p.Cys325Tyr) rs1553810255
NM_024675.3(PALB2):c.212-2A>G rs730881879
NM_024675.3(PALB2):c.2289G>C (p.Leu763Phe) rs373478248
NM_024685.4(BBS10):c.1767C>A (p.Tyr589Ter) rs1565809409
NM_024757.5(EHMT1):c.871C>T (p.Arg291Ter) rs137852714
NM_024818.4(UBA5):c.169A>G (p.Met57Val) rs532178791
NM_024876.4(COQ8B):c.532C>T (p.Arg178Trp) rs398122978
NM_024989.4(PGAP1):c.2287G>A (p.Val763Ile) rs143960563
NM_025114.4(CEP290):c.3790C>T (p.Arg1264Cys) rs139998038
NM_025114.4(CEP290):c.5668G>T (p.Gly1890Ter) rs137852832
NM_025137.4(SPG11):c.1951C>T (p.Arg651Ter) rs199588440
NM_025137.4(SPG11):c.6100C>T (p.Arg2034Ter) rs118203963
NM_025265.4(TSEN2):c.926A>G (p.Tyr309Cys) rs113994149
NM_030621.4(DICER1):c.4005C>A (p.Tyr1335Ter) rs755357184
NM_030632.3(ASXL3):c.3349C>T (p.Arg1117Ter) rs868044680
NM_030632.3(ASXL3):c.4330C>T (p.Arg1444Ter) rs1555744282
NM_030653.4(DDX11):c.1403dup (p.Ser469fs)
NM_030665.4(RAI1):c.3208G>A (p.Gly1070Arg) rs370633684
NM_030777.4(SLC2A10):c.243C>G (p.Ser81Arg) rs80358230
NM_030777.4(SLC2A10):c.313C>T (p.Arg105Cys) rs767864243
NM_031433.4(MFRP):c.271+1G>A
NM_032043.2(BRIP1):c.689C>T (p.Ser230Leu) rs759031349
NM_032043.2(BRIP1):c.890A>G (p.Lys297Arg) rs28997570
NM_032043.3(BRIP1):c.2392C>T (p.Arg798Ter) rs137852986
NM_032119.4(ADGRV1):c.10426G>A (p.Gly3476Arg) rs1060499795
NM_032444.4(SLX4):c.590T>C (p.Val197Ala) rs147826749
NM_032536.4(NTNG2):c.858-13G>A
NM_032608.7(MYO18B):c.6905C>A (p.Ser2302Ter) rs556752387
NM_032682.6(FOXP1):c.1574G>A (p.Arg525Gln) rs1553663084
NM_032737.4(LMNB2):c.1796G>A (p.Gly599Asp) rs145978406
NM_032737.4(LMNB2):c.281C>T (p.Ala94Val) rs778299381
NM_032861.4(SERAC1):c.1763del (p.Val588fs)
NM_032861.4(SERAC1):c.442C>T (p.Arg148Ter) rs387907236
NM_032957.4(RTEL1):c.3028C>T rs373740199
NM_033109.5(PNPT1):c.1519G>T (p.Ala507Ser) rs143712760
NM_033305.3(VPS13A):c.4760A>G (p.Tyr1587Cys) rs149840356
NM_033305.3(VPS13A):c.775A>G (p.Asn259Asp) rs41307461
NM_033360.4(KRAS):c.194G>T (p.Ser65Ile) rs1555194026
NM_033419.5(PGAP3):c.558-10G>A rs200598755
NM_033419.5(PGAP3):c.850C>T (p.His284Tyr) rs759541820
NM_033629.6(TREX1):c.341G>A (p.Arg114His) rs72556554
NM_052859.4(RFT1):c.821A>G (p.Asp274Gly) rs781066087
NM_052876.4(NACC1):c.892C>T (p.Arg298Trp) rs1060505041
NM_054012.4(ASS1):c.1030C>T (p.Arg344Ter) rs786204537
NM_054012.4(ASS1):c.1069C>T (p.Gln357Ter) rs756859126
NM_054012.4(ASS1):c.1087C>T (p.Arg363Trp) rs121908640
NM_054012.4(ASS1):c.1168G>A (p.Gly390Arg) rs121908641
NM_054012.4(ASS1):c.174+1G>T rs748264993
NM_054012.4(ASS1):c.256C>T (p.Arg86Cys) rs121908644
NM_054012.4(ASS1):c.40G>A (p.Gly14Ser) rs121908636
NM_054012.4(ASS1):c.535T>C (p.Trp179Arg) rs121908646
NM_054012.4(ASS1):c.539G>A (p.Ser180Asn) rs121908638
NM_054012.4(ASS1):c.53C>T (p.Ser18Leu) rs121908643
NM_054012.4(ASS1):c.571G>A (p.Glu191Lys) rs777828000
NM_054012.4(ASS1):c.605C>A (p.Ala202Glu) rs376371866
NM_054012.4(ASS1):c.773+1G>A rs982830431
NM_054012.4(ASS1):c.787G>A (p.Val263Met) rs192838388
NM_054012.4(ASS1):c.805G>A (p.Val269Met) rs370595480
NM_054012.4(ASS1):c.814C>T (p.Arg272Cys) rs762387914
NM_054012.4(ASS1):c.835C>T (p.Arg279Ter) rs121908645
NM_054012.4(ASS1):c.892del (p.Glu298fs) rs770362721
NM_054012.4(ASS1):c.929A>G (p.Lys310Arg) rs199751308
NM_054012.4(ASS1):c.931C>T (p.Gln311Ter) rs1301613270
NM_054012.4(ASS1):c.970G>A (p.Gly324Ser) rs121908639
NM_058172.6(ANTXR2):c.134T>C (p.Leu45Pro) rs886041401
NM_058216.3(RAD51C):c.571+5G>A rs145779113
NM_058216.3(RAD51C):c.935G>A (p.Arg312Gln) rs779834376
NM_078480.3(PUF60):c.1381-2A>G rs1057518681
NM_080669.6(SLC46A1):c.1082-1G>A rs80338775
NM_130839.5(UBE3A):c.1064G>C (p.Ser355Thr) rs141984760
NM_130839.5(UBE3A):c.1269C>T (p.Asp423=) rs149506027
NM_130839.5(UBE3A):c.1404A>G (p.Thr468=) rs150331504
NM_130839.5(UBE3A):c.1767C>T (p.Tyr589=) rs139082033
NM_130839.5(UBE3A):c.2415T>C (p.Phe805=) rs587780991
NM_130839.5(UBE3A):c.2540C>T (p.Pro847Leu) rs587781239
NM_130839.5(UBE3A):c.373T>C (p.Leu125=) rs61734190
NM_130839.5(UBE3A):c.377C>A (p.Thr126Lys) rs587781241
NM_130839.5(UBE3A):c.477A>T (p.Ala159=) rs28528079
NM_130839.5(UBE3A):c.618A>T (p.Ala206=) rs143484751
NM_130839.5(UBE3A):c.815A>G (p.Asn272Ser) rs139928148
NM_133171.5(ELMO2):c.1802-1G>C rs886037918
NM_133259.4(LRPPRC):c.4128del (p.Glu1377fs) rs759052246
NM_138387.3(G6PC3):c.566G>A (p.Arg189Gln) rs140294222
NM_138387.3(G6PC3):c.778G>C (p.Gly260Arg) rs200478425
NM_138422.4(ADAT3):c.430G>A (p.Val144Met) rs730882213
NM_138694.4(PKHD1):c.10036T>C (p.Cys3346Arg) rs149798764
NM_138694.4(PKHD1):c.10444C>T (p.Arg3482Cys) rs148617572
NM_138694.4(PKHD1):c.10628_10635del (p.Leu3543fs) rs752889346
NM_138694.4(PKHD1):c.107C>T (p.Thr36Met) rs137852944
NM_138694.4(PKHD1):c.11074C>T (p.Arg3692Ter) rs769559267
NM_138694.4(PKHD1):c.1123C>T (p.Arg375Trp) rs376040501
NM_138694.4(PKHD1):c.11776del (p.Val3926fs) rs1057517324
NM_138694.4(PKHD1):c.11881C>T (p.Arg3961Ter) rs144193508
NM_138694.4(PKHD1):c.1233+1G>A rs886061623
NM_138694.4(PKHD1):c.1397G>C (p.Gly466Ala) rs750730042
NM_138694.4(PKHD1):c.1458C>A (p.Tyr486Ter) rs786204749
NM_138694.4(PKHD1):c.1480C>T (p.Arg494Ter) rs754392766
NM_138694.4(PKHD1):c.1676G>A (p.Arg559Gln) rs142896856
NM_138694.4(PKHD1):c.1830T>A (p.Tyr610Ter) rs749293235
NM_138694.4(PKHD1):c.1836+1G>A rs780898021
NM_138694.4(PKHD1):c.1964+1G>T
NM_138694.4(PKHD1):c.2006G>A (p.Arg669His) rs200497761
NM_138694.4(PKHD1):c.2216C>T (p.Pro739Leu) rs758352210
NM_138694.4(PKHD1):c.2269A>C (p.Ile757Leu) rs777183511
NM_138694.4(PKHD1):c.2279G>A (p.Arg760His) rs745770404
NM_138694.4(PKHD1):c.2414C>T (p.Pro805Leu) rs199531851
NM_138694.4(PKHD1):c.2507T>C (p.Val836Ala) rs199568593
NM_138694.4(PKHD1):c.2725C>T (p.Arg909Ter) rs727504089
NM_138694.4(PKHD1):c.274C>T (p.Arg92Trp) rs370277502
NM_138694.4(PKHD1):c.2936C>T (p.Thr979Ile) rs747895516
NM_138694.4(PKHD1):c.353del (p.Ser118fs) rs398124483
NM_138694.4(PKHD1):c.3766del (p.Gln1256fs) rs746972457
NM_138694.4(PKHD1):c.4870C>T (p.Arg1624Trp) rs200391019
NM_138694.4(PKHD1):c.5221G>A (p.Val1741Met) rs137852946
NM_138694.4(PKHD1):c.5498C>T (p.Ser1833Leu) rs201105958
NM_138694.4(PKHD1):c.5751+3A>G rs1581726525
NM_138694.4(PKHD1):c.5752-2A>G rs1057516407
NM_138694.4(PKHD1):c.5912G>A (p.Gly1971Asp) rs180675584
NM_138694.4(PKHD1):c.6091del (p.Ala2031fs) rs1057516804
NM_138694.4(PKHD1):c.664A>G (p.Ile222Val) rs369925690
NM_138694.4(PKHD1):c.667G>A (p.Gly223Ser) rs749454235
NM_138694.4(PKHD1):c.6809-2A>T rs1340926191
NM_138694.4(PKHD1):c.6992T>A (p.Ile2331Lys) rs200179145
NM_138694.4(PKHD1):c.7280T>C (p.Ile2427Thr) rs398124492
NM_138694.4(PKHD1):c.7916C>A (p.Ser2639Ter) rs181208607
NM_138694.4(PKHD1):c.8518C>T (p.Arg2840Cys) rs200432861
NM_138694.4(PKHD1):c.8555-2A>C rs1020621286
NM_138694.4(PKHD1):c.8935C>T (p.Arg2979Ter) rs765020336
NM_138694.4(PKHD1):c.898A>T (p.Arg300Ter) rs1582053820
NM_138694.4(PKHD1):c.930del (p.Thr311fs) rs398124501
NM_138694.4(PKHD1):c.9319C>T (p.Arg3107Ter) rs786204688
NM_138694.4(PKHD1):c.9530T>C (p.Ile3177Thr) rs200511261
NM_138694.4(PKHD1):c.9559del (p.Ser3187fs) rs797045101
NM_138694.4(PKHD1):c.982C>T (p.Arg328Ter) rs398124503
NM_138694.4(PKHD1):c.983G>A (p.Arg328Gln) rs770494581
NM_138927.3(SON):c.5753_5756del (p.Val1918fs) rs886039773
NM_139025.4(ADAMTS13):c.3178C>T (p.Arg1060Trp) rs142572218
NM_139025.4(ADAMTS13):c.559G>C (p.Asp187His) rs148312697
NM_144508.5(KNL1):c.6482A>G (p.Asp2161Gly) rs142872154
NM_144573.4(NEXN):c.1955A>G (p.Tyr652Cys) rs137853197
NM_144612.6(LOXHD1):c.4217C>T (p.Ala1406Val) rs146739496
NM_144612.6(LOXHD1):c.442A>T (p.Lys148Ter) rs886044666
NM_144966.5(FREM1):c.4442+3G>A rs181859461
NM_144997.7(FLCN):c.1580G>A (p.Arg527Gln) rs777826268
NM_145064.3(STAC3):c.997-1G>C rs779483367
NM_145239.3(PRRT2):c.649del (p.Arg217fs) rs587778771
NM_147127.5(EVC2):c.1364C>G (p.Thr455Arg) rs141287105
NM_147196.2(TMIE):c.274C>T (p.Arg92Trp) rs28941781
NM_147686.4(TRAF3IP2):c.232C>G (p.Arg78Gly) rs73764462
NM_152383.5(DIS3L2):c.325dup (p.Asp109fs)
NM_152383.5(DIS3L2):c.878C>A (p.Pro293His) rs187563594
NM_152393.4(KLHL40):c.1273G>A (p.Gly425Ser) rs138791086
NM_152564.5(VPS13B):c.11510_11513dup (p.Gly3839fs) rs1588811810
NM_152743.4(BRAT1):c.1196G>A (p.Arg399Gln) rs371360176
NM_152778.3(MFSD8):c.1235C>T (p.Pro412Leu) rs267607235
NM_153033.4(KCTD7):c.458G>A (p.Arg153His) rs765235486
NM_153218.4(LACC1):c.850T>C (p.Cys284Arg) rs730880295
NM_153603.4(COG7):c.1178A>G (p.His393Arg) rs116331296
NM_153603.4(COG7):c.1717C>T (p.Arg573Trp) rs548129734
NM_153704.6(TMEM67):c.1319G>A (p.Arg440Gln) rs386834182
NM_170707.4(LMNA):c.745C>T (p.Arg249Trp) rs121912496
NM_172107.4(KCNQ2):c.901G>A (p.Gly301Ser) rs1057516099
NM_172218.2(SPAG1):c.2714C>T (p.Ser905Leu) rs142031266
NM_172218.2(SPAG1):c.413T>C (p.Leu138Pro) rs141605537
NM_172250.3(MMAA):c.433C>T (p.Arg145Ter) rs104893851
NM_173170.1(IL36RN):c.227C>T (p.Pro76Leu) rs139497891
NM_173354.5(SIK1):c.2034G>T (p.Gln678His)
NM_173354.5(SIK1):c.468G>A (p.Leu156=)
NM_173483.4(CYP4F22):c.177C>G (p.Phe59Leu) rs118091316
NM_176787.5(PIGN):c.163C>T (p.Arg55Ter)
NM_176787.5(PIGN):c.1759C>T (p.Arg587Ter) rs376226764
NM_176787.5(PIGN):c.283C>T (p.Arg95Trp) rs558341655
NM_176869.3(PPA2):c.380G>T (p.Arg127Leu) rs139076647
NM_177550.4(SLC13A5):c.1475T>C (p.Leu492Pro) rs1057519449
NM_177550.4(SLC13A5):c.655G>A (p.Gly219Arg) rs144332569
NM_177559.3(CSNK2A1):c.593A>G (p.Lys198Arg) rs869312840
NM_177924.5(ASAH1):c.536C>T (p.Thr179Ile) rs766257867
NM_178526.5(SLC25A42):c.871A>G (p.Asn291Asp) rs864321624
NM_181078.3(IL21R):c.1033G>A (p.Gly345Ser) rs56148525
NM_181503.3(EXOSC8):c.815G>C (p.Ser272Thr) rs36027220
NM_181523.3(PIK3R1):c.1425+1G>A rs587777709
NM_182649.2(PCNA):c.683G>T (p.Ser228Ile) rs369958038
NM_182746.3(MCM4):c.1406G>C (p.Ser469Thr) rs117063344
NM_182760.4(SUMF1):c.836C>T (p.Ala279Val) rs137852849
NM_182961.4(SYNE1):c.14452T>A (p.Tyr4818Asn) rs142422990
NM_182961.4(SYNE1):c.22783A>G (p.Ile7595Val) rs146320179
NM_182961.4(SYNE1):c.4107T>A (p.Phe1369Leu) rs149109801
NM_182961.4(SYNE1):c.6339T>C (p.Thr2113=) rs141671123
NM_183050.4(BCKDHB):c.970C>T (p.Arg324Ter) rs398124603
NM_183235.3(RAB27A):c.244C>T (p.Arg82Cys) rs753966933
NM_183357.2(ADCY5):c.1252C>T (p.Arg418Trp) rs864309483
NM_194248.2(OTOF):c.5098G>C rs199766465
NM_194248.3(OTOF):c.5816G>A (p.Arg1939Gln) rs80356605
NM_194454.3(KRIT1):c.146_147del (p.Arg49fs) rs1057518665
NM_198239.2(CCN6):c.233G>A (p.Cys78Tyr) rs1562595388
NM_198271.4(LMOD3):c.788T>C (p.Ile263Thr) rs9835034
NM_198578.4(LRRK2):c.5606T>C (p.Met1869Thr) rs35602796
NM_198578.4(LRRK2):c.6055G>A (p.Gly2019Ser) rs34637584
NM_198586.3(NHLRC1):c.46A>G (p.Met16Val) rs146636139
NM_198859.4(PRICKLE2):c.1813G>T (p.Val605Phe) rs387906989
NM_198903.2(GABRG2):c.316G>A (p.Ala106Thr) rs796052505
NM_199242.2(UNC13D):c.2002C>T (p.Arg668Cys) rs376137910
NM_199242.2(UNC13D):c.2553+5C>G rs201930023
NM_199242.2(UNC13D):c.610A>G (p.Met204Val) rs144722609
NM_201253.3(CRB1):c.2843G>A (p.Cys948Tyr) rs62645748
NM_201631.4(TGM5):c.1335G>C (p.Lys445Asn) rs606231276
NM_203447.3(DOCK8):c.1582C>A (p.Leu528Met) rs146250176
NM_203447.3(DOCK8):c.378C>G (p.Ile126Met) rs141175202
NM_203447.3(DOCK8):c.3988C>G (p.Leu1330Val) rs148081681
NM_203447.3(DOCK8):c.4724G>A (p.Arg1575Lys) rs141252560
NM_203447.3(DOCK8):c.54-1G>T rs192864327
NM_203447.3(DOCK8):c.550G>A (p.Val184Met) rs143461644
NM_206933.3(USH2A):c.10342G>A (p.Glu3448Lys) rs368049814
NM_206933.3(USH2A):c.15017C>T (p.Thr5006Met) rs757676723
NM_206933.3(USH2A):c.2802T>G (p.Cys934Trp) rs201527662
NM_206933.4(USH2A):c.12575G>A (p.Arg4192His) rs199605265
NM_206933.4(USH2A):c.2276G>T (p.Cys759Phe) rs80338902
NM_206965.2(FTCD):c.1358C>T (p.Thr453Met) rs200283734
NM_206965.2(FTCD):c.990dup (p.Pro331fs) rs398124234
NM_207037.2(TCF12):c.1838G>A (p.Arg613His)
NM_207346.3(TSEN54):c.919G>T (p.Ala307Ser) rs113994152
NM_212552.3(BOLA3):c.258+9A>C rs201380456
NM_213607.3(CCDC103):c.461A>C (p.His154Pro) rs145457535
Single allele

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