ClinVar Miner

Variants from Database of Curated Mutations (DoCM) with conflicting interpretations

Location: United States — Primary collection method: literature only
Minimum review status of the submission from Database of Curated Mutations (DoCM): Collection method of the submission from Database of Curated Mutations (DoCM):
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
391 372 14 363 0 33 151 492

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
Database of Curated Mutations (DoCM) pathogenic likely pathogenic uncertain significance likely benign benign affects drug response protective risk factor other
pathogenic 10 126 15 0 0 0 10 1 2 4
likely pathogenic 356 4 135 13 10 1 12 1 8 11

Submitter to submitter summary #

Total submitters: 101
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
Invitae 0 22 0 107 0 0 97 204
OMIM 0 20 0 167 0 13 0 178
GeneDx 0 23 0 108 0 0 16 124
Database of Curated Mutations (DoCM) 539 597 0 119 0 0 0 119
Ambry Genetics 0 63 0 72 0 0 39 111
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine 0 21 0 59 0 4 11 73
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 2 0 25 0 0 11 36
GeneReviews 0 1 10 32 0 0 0 35
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 4 0 20 0 0 5 25
Fulgent Genetics,Fulgent Genetics 0 0 0 20 0 0 1 21
Counsyl 0 5 0 11 0 0 9 20
Integrated Genetics/Laboratory Corporation of America 0 4 0 15 0 0 5 20
Mendelics 0 5 0 13 0 0 7 20
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 7 0 16 0 0 2 18
Color 0 6 0 8 0 0 10 18
Research and Development, ARUP Laboratories 0 1 0 17 0 0 1 18
Baylor Genetics 0 1 0 17 0 0 0 17
Donald Williams Parsons Laboratory,Baylor College of Medicine 0 0 0 4 0 9 0 13
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 3 0 8 0 0 4 12
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne 0 77 0 12 0 0 0 12
ClinGen RASopathy Variant Curation Expert Panel 0 1 0 11 0 0 0 11
Clinical Molecular Genetics Laboratory,Johns Hopkins All Children's Hospital 0 1 0 10 0 0 0 10
Quest Diagnostics Nichols Institute San Juan Capistrano 0 3 0 9 0 0 1 10
ClinGen TP53 Variant Curation Expert Panel,ClinGen 0 2 0 9 0 0 1 10
PreventionGenetics,PreventionGenetics 0 2 0 4 0 0 5 9
Illumina Clinical Services Laboratory,Illumina 0 3 0 2 0 0 7 9
Pathway Genomics 0 1 0 8 0 0 1 9
Genetic Diagnostic Laboratory,University of Pennsylvania School of Medicine 0 0 0 7 0 0 0 7
Genomics and Pathology Services,Washington University in St.Louis 0 0 0 7 0 0 0 7
Yale Center for Mendelian Genomics,Yale University 0 1 0 7 0 0 0 7
Center for Human Genetics, Inc 0 1 0 6 0 0 0 6
Genetic Services Laboratory, University of Chicago 0 2 0 5 0 0 1 6
Molecular Diagnostics Lab,Nemours Alfred I. duPont Hospital for Children 0 2 0 6 0 0 0 6
Science for Life laboratory, Karolinska Institutet 0 0 0 0 0 0 6 6
Blueprint Genetics 0 3 0 6 0 0 0 6
ClinGen PTEN Variant Curation Expert Panel 0 0 0 4 0 0 2 6
Athena Diagnostics Inc 0 0 0 4 0 0 1 5
CSER _CC_NCGL, University of Washington 0 1 0 1 0 0 4 5
Oxford Haemato-Oncology Service,Oxford University Hospitals NHS Foundation Trust 0 0 0 0 0 5 0 5
Clinical Genomics Lab,St. Jude Children's Research Hospital 0 0 0 3 0 0 2 5
Biesecker Lab/Clinical Genomics Section,National Institutes of Health 0 1 0 0 0 0 4 4
Richard Lifton Laboratory, Yale University School of Medicine 0 0 4 1 0 0 1 4
Service de Génétique Moléculaire,Hôpital Robert Debré 0 2 0 1 0 0 3 4
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 0 0 3 0 0 1 4
CeGaT Praxis fuer Humangenetik Tuebingen 0 1 0 1 0 0 3 4
Herman Laboratory,Nationwide Children's Hospital 0 1 0 4 0 0 0 4
CIViC knowledgebase,Washington University School of Medicine 0 0 0 0 0 4 0 4
Institute for Genomic Statistics and Bioinformatics, University Hospital Bonn 0 0 0 4 0 0 0 4
Xiao lab, Department of Pathology, Memorial Sloan Kettering Cancer Center 0 1 0 4 0 0 0 4
Institute of Human Genetics,Klinikum rechts der Isar 0 1 0 3 0 0 0 3
PharmGKB 0 5 0 0 0 3 0 3
Genome Sciences Centre,British Columbia Cancer Agency 0 4 0 2 0 0 1 3
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 0 0 3 0 0 0 3
NIHR Bioresource Rare Diseases, University of Cambridge 0 0 0 2 0 0 1 3
Department of Pathology and Laboratory Medicine,Sinai Health System 0 0 0 2 0 0 1 3
Arin Greene Laboratory,Boston Children's Hospital, Harvard Medical School 0 0 0 3 0 0 0 3
Greenwood Genetic Center Diagnostic Laboratories,Greenwood Genetic Center 0 0 0 2 0 0 0 2
Molecular Genetics Laboratory,BC Children's and BC Women's Hospitals 0 0 0 2 0 0 0 2
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 0 2 0 2 0 0 0 2
Hospital of the University of Pennsylvania,Center for Personalized Diagnostics 0 0 0 2 0 0 0 2
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 0 0 1 0 0 1 2
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 0 0 2 0 0 0 2
CHLA Center for Personalized Medicine,Children's Hospital, Los Angeles 0 0 0 2 0 0 0 2
3DMed Clinical Laboratory Inc 0 0 0 2 0 0 0 2
Western Connecticut Health Network,Rudy L. Ruggles Biomedical Research Institute 0 0 0 2 0 0 0 2
Gharavi Laboratory,Columbia University 0 1 0 0 0 0 2 2
Center for Advanced Molecular Diagnostics, Cytogenetics Laboratory,Brigham and Women's Hospital 0 0 0 1 0 0 0 1
Victorian Clinical Genetics Services,Murdoch Childrens Research Institute 0 0 0 1 0 0 0 1
Academic Department of Medical Genetics, University of Cambridge 0 1 0 1 0 0 0 1
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 0 0 0 0 0 0 1 1
Agnes Ginges Centre for Molecular Cardiology,Centenary Institute 0 0 0 1 0 0 0 1
Programa de Pós-Graduação em Ciências Genômicas e Biotecnologia,Universidade Católica de Brasília 0 0 0 1 0 0 0 1
GeneKor MSA 0 4 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 1 0 0 0 1
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics 0 0 0 1 0 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 0 0 0 0 1 1
Prostate Cancer Research Center,Institute of Biosciences and Medical Technology, University of Tampere 0 1 0 1 0 0 0 1
Department of Medical Genetics,University of Szeged 0 0 0 1 0 0 0 1
Vantari Genetics 0 0 0 0 0 0 1 1
Bioinformatics dept.,Datar Cancer Genetics Limited, India 0 0 0 1 0 0 0 1
International Peace Maternity and Child Health Hospital, Shanghai Jiao Tong University School of Medicine 0 0 0 1 0 0 0 1
Institute of Biochemistry, Molecular Biology and Biotechnology,University of Colombo 0 0 0 1 0 0 0 1
Undiagnosed Diseases Network,NIH 0 0 0 1 0 0 0 1
Heinzen Lab,Columbia University 0 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 0 0 1 0 0 0 1
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago 0 0 0 1 0 0 0 1
Genomic Medicine Laboratory,University of Vermont Medical Center 0 0 0 1 0 0 0 1
Tampere Brain Tumor Research Consortium,University of Tampere 0 0 0 1 0 0 0 1
Department of Genetics,Sultan Qaboos University Hospital, Oman 0 1 0 0 0 0 1 1
Liping Wei Laboratory,Peking University 0 0 0 1 0 0 0 1
Clinical Cancer Genetics and Family Consultants,Athens Medical Center 0 0 0 1 0 0 0 1
Genomic Medicine Lab, University of California San Francisco 0 0 0 1 0 0 0 1
Johns Hopkins Genomics,Johns Hopkins University 0 0 0 1 0 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 2 0 1 0 0 0 1
Thoracic Oncology Service,Memorial Sloan Kettering Cancer Center 0 0 0 1 0 0 0 1
Laboratory for Clinical Genomics and Advanced Technology,Dartmouth-Hitchcock Medical Center 0 0 0 1 0 0 0 1
Biesecker Lab Rare Disease,National Institutes of Health 0 0 0 1 0 0 0 1
OSU Cancer Genomics Laboratory, Ohio State University Medical Center 0 0 0 0 0 1 0 1
Center of Human Genetics, Erasme Hospital 0 0 0 1 0 0 0 1
ClinGen Myeloid Malignancy Variant Curation Expert Panel 0 0 0 1 0 0 0 1
University Health Network,Princess Margaret Cancer Centre 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 492
Download table as spreadsheet
HGVS dbSNP
NM_000038.6(APC):c.2626C>T (p.Arg876Ter) rs121913333
NM_000038.6(APC):c.3340C>T (p.Arg1114Ter) rs121913331
NM_000038.6(APC):c.3916G>T (p.Glu1306Ter) rs121913462
NM_000038.6(APC):c.4012C>T (p.Gln1338Ter) rs121913327
NM_000038.6(APC):c.4132C>T (p.Gln1378Ter) rs121913329
NM_000038.6(APC):c.4348C>T (p.Arg1450Ter) rs121913332
NM_000061.2(BTK):c.1442G>C (p.Cys481Ser) rs1057519825
NM_000075.4(CDK4):c.70C>T (p.Arg24Cys) rs11547328
NM_000075.4(CDK4):c.71G>A (p.Arg24His) rs104894340
NM_000077.4(CDKN2A):c.149A>G (p.Gln50Arg) rs587778189
NM_000077.4(CDKN2A):c.172C>T (p.Arg58Ter) rs121913387
NM_000077.4(CDKN2A):c.238C>T (p.Arg80Ter) rs121913388
NM_000077.4(CDKN2A):c.247C>T (p.His83Tyr) rs121913385
NM_000077.4(CDKN2A):c.250G>T (p.Asp84Tyr) rs11552822
NM_000077.4(CDKN2A):c.329G>A (p.Trp110Ter) rs1057519852
NM_000077.4(CDKN2A):c.341C>T (p.Pro114Leu) rs121913386
NM_000215.3(JAK3):c.2164G>A (p.Val722Ile) rs3213409
NM_000215.3(JAK3):c.394C>A (p.Pro132Thr) rs3212723
NM_000222.2(KIT):c.154G>A (p.Asp52Asn) rs121913505
NM_000222.2(KIT):c.1669T>A (p.Trp557Arg) rs121913235
NM_000222.2(KIT):c.1669T>C (p.Trp557Arg) rs121913235
NM_000222.2(KIT):c.1674G>T (p.Lys558Asn) rs200375589
NM_000222.2(KIT):c.1676T>A (p.Val559Asp) rs121913517
NM_000222.2(KIT):c.1676T>C (p.Val559Ala) rs121913517
NM_000222.2(KIT):c.1676T>G (p.Val559Gly) rs121913517
NM_000222.2(KIT):c.1679T>A (p.Val560Asp) rs121913521
NM_000222.2(KIT):c.1679T>G (p.Val560Gly) rs121913521
NM_000222.2(KIT):c.1727T>C (p.Leu576Pro) rs121913513
NM_000222.2(KIT):c.1924A>G (p.Lys642Glu) rs121913512
NM_000222.2(KIT):c.1961T>C (p.Val654Ala) rs121913523
NM_000222.2(KIT):c.1964A>G (p.Asn655Ser) rs1057519707
NM_000222.2(KIT):c.1965T>A (p.Asn655Lys) rs1057519708
NM_000222.2(KIT):c.1965T>G (p.Asn655Lys) rs1057519708
NM_000222.2(KIT):c.2089C>T (p.His697Tyr) rs763308199
NM_000222.2(KIT):c.2446G>C (p.Asp816His) rs121913506
NM_000222.2(KIT):c.2446G>T (p.Asp816Tyr) rs121913506
NM_000222.2(KIT):c.2447A>T (p.Asp816Val) rs121913507
NM_000222.2(KIT):c.2465A>T (p.Asn822Ile) rs993022333
NM_000222.2(KIT):c.2466T>A (p.Asn822Lys) rs121913514
NM_000222.2(KIT):c.2466T>G (p.Asn822Lys) rs121913514
NM_000222.2(KIT):c.2485G>C (p.Ala829Pro) rs1057519713
NM_000222.2(KIT):c.2515G>A (p.Glu839Lys) rs121913509
NM_000249.3(MLH1):c.1151T>A (p.Val384Asp) rs63750447
NM_000314.7(PTEN):c.1003C>T (p.Arg335Ter) rs121909231
NM_000314.7(PTEN):c.388C>T (p.Arg130Ter) rs121909224
NM_000314.7(PTEN):c.389G>A (p.Arg130Gln) rs121909229
NM_000314.7(PTEN):c.389G>C (p.Arg130Pro) rs121909229
NM_000314.7(PTEN):c.389G>T (p.Arg130Leu) rs121909229
NM_000314.7(PTEN):c.517C>T (p.Arg173Cys) rs121913293
NM_000314.7(PTEN):c.518G>A (p.Arg173His) rs121913294
NM_000314.7(PTEN):c.698G>A (p.Arg233Gln) rs770025422
NM_000314.7(PTEN):c.700C>T (p.Arg234Trp) rs786201730
NM_000321.2(RB1):c.1072C>T (p.Arg358Ter) rs121913301
NM_000321.2(RB1):c.1363C>T (p.Arg455Ter) rs121913302
NM_000321.2(RB1):c.1654C>T (p.Arg552Ter) rs121913303
NM_000321.2(RB1):c.1666C>T (p.Arg556Ter) rs121913304
NM_000321.2(RB1):c.1735C>T (p.Arg579Ter) rs121913305
NM_000321.2(RB1):c.2242G>T (p.Glu748Ter) rs121913297
NM_000321.2(RB1):c.409G>T (p.Glu137Ter) rs121913296
NM_000321.2(RB1):c.958C>T (p.Arg320Ter) rs121913300
NM_000455.4(STK11):c.1060T>C (p.Phe354Leu) rs1057520018
NM_000455.4(STK11):c.1088C>T (p.Thr363Ile) rs587778695
NM_000455.4(STK11):c.109C>T (p.Gln37Ter) rs121913324
NM_000455.4(STK11):c.200T>C (p.Leu67Pro) rs137853077
NM_000455.4(STK11):c.508C>T (p.Gln170Ter) rs121913323
NM_000455.4(STK11):c.526G>A (p.Asp176Asn) rs730881979
NM_000455.4(STK11):c.580G>A (p.Asp194Asn) rs121913315
NM_000455.4(STK11):c.580G>T (p.Asp194Tyr) rs121913315
NM_000455.4(STK11):c.595G>A (p.Glu199Lys) rs121913317
NM_000455.4(STK11):c.717G>C (p.Trp239Cys) rs137853082
NM_000455.4(STK11):c.842C>T (p.Pro281Leu) rs121913322
NM_000455.4(STK11):c.910C>T (p.Arg304Trp) rs786201090
NM_000455.4(STK11):c.971C>T (p.Pro324Leu) rs367807476
NM_000551.3(VHL):c.241C>T (p.Pro81Ser) rs104893829
NM_000551.3(VHL):c.481C>T (p.Arg161Ter) rs5030818
NM_000551.3(VHL):c.499C>T (p.Arg167Trp) rs5030820
NM_000760.4(CSF3R):c.1853C>T (p.Thr618Ile) rs796065343
NM_001007228.2(SPOP):c.305T>G (p.Phe102Cys) rs193920894
NM_001007228.2(SPOP):c.399C>G (p.Phe133Leu) rs193921065
NM_001077488.4(GNAS):c.604C>T (p.Arg202Cys) rs11554273
NM_001077488.4(GNAS):c.605G>A (p.Arg202His) rs121913495
NM_001077488.4(GNAS):c.605G>T (p.Arg202Leu) rs121913495
NM_001077488.4(GNAS):c.683A>T (p.Gln228Leu) rs121913494
NM_001079846.1(CREBBP):c.4222C>T (p.Arg1408Cys) rs398124146
NM_001093772.1(KIT):c.1664_1666TTG[1] (p.Val556del) rs121913685
NM_001105.5(ACVR1):c.983G>A (p.Gly328Glu) rs387906589
NM_001105.5(ACVR1):c.983G>T (p.Gly328Val) rs387906589
NM_001126112.2(TP53):c.332T>C (p.Leu111Pro) rs1057519997
NM_001126112.2(TP53):c.374C>A (p.Thr125Lys) rs786201057
NM_001126112.2(TP53):c.374C>G (p.Thr125Arg) rs786201057
NM_001126112.2(TP53):c.374C>T (p.Thr125Met) rs786201057
NM_001126112.2(TP53):c.394A>G (p.Lys132Glu) rs747342068
NM_001126112.2(TP53):c.395A>G (p.Lys132Arg) rs1057519996
NM_001126112.2(TP53):c.395A>T (p.Lys132Met) rs1057519996
NM_001126112.2(TP53):c.396G>C (p.Lys132Asn) rs866775781
NM_001126112.2(TP53):c.403T>A (p.Cys135Ser) rs1057519975
NM_001126112.2(TP53):c.403T>G (p.Cys135Gly) rs1057519975
NM_001126112.2(TP53):c.405C>G (p.Cys135Trp) rs1057519976
NM_001126112.2(TP53):c.422G>A (p.Cys141Tyr) rs587781288
NM_001126112.2(TP53):c.423C>G (p.Cys141Trp) rs1057519977
NM_001126112.2(TP53):c.431A>C (p.Gln144Pro) rs786203071
NM_001126112.2(TP53):c.431A>T (p.Gln144Leu) rs786203071
NM_001126112.2(TP53):c.451C>A (p.Pro151Thr) rs28934874
NM_001126112.2(TP53):c.451C>G (p.Pro151Ala) rs28934874
NM_001126112.2(TP53):c.451C>T (p.Pro151Ser) rs28934874
NM_001126112.2(TP53):c.452C>A (p.Pro151His) rs1057520000
NM_001126112.2(TP53):c.452C>G (p.Pro151Arg) rs1057520000
NM_001126112.2(TP53):c.487T>A (p.Tyr163Asn) rs786203436
NM_001126112.2(TP53):c.487T>C (p.Tyr163His) rs786203436
NM_001126112.2(TP53):c.488A>G (p.Tyr163Cys) rs148924904
NM_001126112.2(TP53):c.517G>A (p.Val173Met) rs876660754
NM_001126112.2(TP53):c.517G>T (p.Val173Leu) rs876660754
NM_001126112.2(TP53):c.518T>A (p.Val173Glu) rs1057519747
NM_001126112.2(TP53):c.518T>G (p.Val173Gly) rs1057519747
NM_001126112.2(TP53):c.523C>G (p.Arg175Gly) rs138729528
NM_001126112.2(TP53):c.523C>T (p.Arg175Cys) rs138729528
NM_001126112.2(TP53):c.524G>A (p.Arg175His) rs28934578
NM_001126112.2(TP53):c.526T>A (p.Cys176Ser) rs967461896
NM_001126112.2(TP53):c.526T>G (p.Cys176Gly) rs967461896
NM_001126112.2(TP53):c.527G>A (p.Cys176Tyr) rs786202962
NM_001126112.2(TP53):c.528C>G (p.Cys176Trp) rs1057519980
NM_001126112.2(TP53):c.535C>A (p.His179Asn) rs587780070
NM_001126112.2(TP53):c.535C>T (p.His179Tyr) rs587780070
NM_001126112.2(TP53):c.536A>G (p.His179Arg) rs1057519991
NM_001126112.2(TP53):c.536A>T (p.His179Leu) rs1057519991
NM_001126112.2(TP53):c.537T>G (p.His179Gln) rs876660821
NM_001126112.2(TP53):c.578A>C (p.His193Pro) rs786201838
NM_001126112.2(TP53):c.578A>T (p.His193Leu) rs786201838
NM_001126112.2(TP53):c.581T>A (p.Leu194His) rs1057519998
NM_001126112.2(TP53):c.581T>C (p.Leu194Pro) rs1057519998
NM_001126112.2(TP53):c.581T>G (p.Leu194Arg) rs1057519998
NM_001126112.2(TP53):c.584T>A (p.Ile195Asn) rs760043106
NM_001126112.2(TP53):c.584T>C (p.Ile195Thr) rs760043106
NM_001126112.2(TP53):c.585C>G (p.Ile195Met) rs1057519994
NM_001126112.2(TP53):c.613T>A (p.Tyr205Asn) rs1057520008
NM_001126112.2(TP53):c.613T>C (p.Tyr205His) rs1057520008
NM_001126112.2(TP53):c.613T>G (p.Tyr205Asp) rs1057520008
NM_001126112.2(TP53):c.638G>A (p.Arg213Gln) rs587778720
NM_001126112.2(TP53):c.638G>C (p.Arg213Pro) rs587778720
NM_001126112.2(TP53):c.641A>G (p.His214Arg) rs1057519992
NM_001126112.2(TP53):c.643A>G (p.Ser215Gly) rs886039484
NM_001126112.2(TP53):c.644G>A (p.Ser215Asn) rs587782177
NM_001126112.2(TP53):c.644G>T (p.Ser215Ile) rs587782177
NM_001126112.2(TP53):c.645T>G (p.Ser215Arg) rs1057520001
NM_001126112.2(TP53):c.646G>A (p.Val216Met) rs730882025
NM_001126112.2(TP53):c.658T>C (p.Tyr220His) rs530941076
NM_001126112.2(TP53):c.659A>C (p.Tyr220Ser) rs121912666
NM_001126112.2(TP53):c.659A>G (p.Tyr220Cys) rs121912666
NM_001126112.2(TP53):c.700T>A (p.Tyr234Asn) rs864622237
NM_001126112.2(TP53):c.700T>C (p.Tyr234His) rs864622237
NM_001126112.2(TP53):c.700T>G (p.Tyr234Asp) rs864622237
NM_001126112.2(TP53):c.701A>G (p.Tyr234Cys) rs587780073
NM_001126112.2(TP53):c.706T>A (p.Tyr236Asn) rs587782289
NM_001126112.2(TP53):c.706T>G (p.Tyr236Asp) rs587782289
NM_001126112.2(TP53):c.709A>G (p.Met237Val) rs730882004
NM_001126112.2(TP53):c.711G>A (p.Met237Ile) rs587782664
NM_001126112.2(TP53):c.712T>C (p.Cys238Arg) rs1057519981
NM_001126112.2(TP53):c.713G>A (p.Cys238Tyr) rs730882005
NM_001126112.2(TP53):c.713G>T (p.Cys238Phe) rs730882005
NM_001126112.2(TP53):c.715A>G (p.Asn239Asp) rs876660807
NM_001126112.2(TP53):c.716A>C (p.Asn239Thr) rs1057519999
NM_001126112.2(TP53):c.722C>T (p.Ser241Phe) rs28934573
NM_001126112.2(TP53):c.724T>A (p.Cys242Ser) rs1057519982
NM_001126112.2(TP53):c.724T>G (p.Cys242Gly) rs1057519982
NM_001126112.2(TP53):c.725G>A (p.Cys242Tyr) rs121912655
NM_001126112.2(TP53):c.725G>T (p.Cys242Phe) rs121912655
NM_001126112.2(TP53):c.730G>A (p.Gly244Ser) rs1057519989
NM_001126112.2(TP53):c.730G>T (p.Gly244Cys) rs1057519989
NM_001126112.2(TP53):c.731G>A (p.Gly244Asp) rs985033810
NM_001126112.2(TP53):c.733G>A (p.Gly245Ser) rs28934575
NM_001126112.2(TP53):c.733G>C (p.Gly245Arg) rs28934575
NM_001126112.2(TP53):c.733G>T (p.Gly245Cys) rs28934575
NM_001126112.2(TP53):c.734G>A (p.Gly245Asp) rs121912656
NM_001126112.2(TP53):c.734G>T (p.Gly245Val) rs121912656
NM_001126112.2(TP53):c.742C>G (p.Arg248Gly) rs121912651
NM_001126112.2(TP53):c.742C>T (p.Arg248Trp) rs121912651
NM_001126112.2(TP53):c.743G>A (p.Arg248Gln) rs11540652
NM_001126112.2(TP53):c.743G>T (p.Arg248Leu) rs11540652
NM_001126112.2(TP53):c.745A>G (p.Arg249Gly) rs587782082
NM_001126112.2(TP53):c.745A>T (p.Arg249Trp) rs587782082
NM_001126112.2(TP53):c.746G>A (p.Arg249Lys) rs587782329
NM_001126112.2(TP53):c.746G>T (p.Arg249Met) rs587782329
NM_001126112.2(TP53):c.764T>A (p.Ile255Asn) rs876659675
NM_001126112.2(TP53):c.764T>C (p.Ile255Thr) rs876659675
NM_001126112.2(TP53):c.796G>C (p.Gly266Arg) rs1057519990
NM_001126112.2(TP53):c.797G>A (p.Gly266Glu) rs193920774
NM_001126112.2(TP53):c.797G>T (p.Gly266Val) rs193920774
NM_001126112.2(TP53):c.808T>G (p.Phe270Val) rs1057519988
NM_001126112.2(TP53):c.809T>C (p.Phe270Ser) rs1057519986
NM_001126112.2(TP53):c.814G>A (p.Val272Met) rs121912657
NM_001126112.2(TP53):c.814G>T (p.Val272Leu) rs121912657
NM_001126112.2(TP53):c.815T>G (p.Val272Gly) rs876660333
NM_001126112.2(TP53):c.817C>A (p.Arg273Ser) rs121913343
NM_001126112.2(TP53):c.817C>T (p.Arg273Cys) rs121913343
NM_001126112.2(TP53):c.818G>A (p.Arg273His) rs28934576
NM_001126112.2(TP53):c.818G>C (p.Arg273Pro) rs28934576
NM_001126112.2(TP53):c.818G>T (p.Arg273Leu) rs28934576
NM_001126112.2(TP53):c.820G>C (p.Val274Leu) rs1057520005
NM_001126112.2(TP53):c.821T>G (p.Val274Gly) rs1057520006
NM_001126112.2(TP53):c.824G>A (p.Cys275Tyr) rs863224451
NM_001126112.2(TP53):c.824G>C (p.Cys275Ser) rs863224451
NM_001126112.2(TP53):c.832C>A (p.Pro278Thr) rs17849781
NM_001126112.2(TP53):c.832C>G (p.Pro278Ala) rs17849781
NM_001126112.2(TP53):c.832C>T (p.Pro278Ser) rs17849781
NM_001126112.2(TP53):c.833C>A (p.Pro278His) rs876659802
NM_001126112.2(TP53):c.833C>G (p.Pro278Arg) rs876659802
NM_001126112.2(TP53):c.833C>T (p.Pro278Leu) rs876659802
NM_001126112.2(TP53):c.838A>G (p.Arg280Gly) rs753660142
NM_001126112.2(TP53):c.839G>A (p.Arg280Lys) rs121912660
NM_001126112.2(TP53):c.839G>C (p.Arg280Thr) rs121912660
NM_001126112.2(TP53):c.839G>T (p.Arg280Ile) rs121912660
NM_001126112.2(TP53):c.841G>A (p.Asp281Asn) rs764146326
NM_001126112.2(TP53):c.841G>T (p.Asp281Tyr) rs764146326
NM_001126112.2(TP53):c.842A>G (p.Asp281Gly) rs587781525
NM_001126112.2(TP53):c.842A>T (p.Asp281Val) rs587781525
NM_001126112.2(TP53):c.843C>G (p.Asp281Glu) rs1057519984
NM_001126112.2(TP53):c.844C>G (p.Arg282Gly) rs28934574
NM_001126112.2(TP53):c.844C>T (p.Arg282Trp) rs28934574
NM_001126112.2(TP53):c.845G>A (p.Arg282Gln) rs730882008
NM_001126112.2(TP53):c.845G>C (p.Arg282Pro) rs730882008
NM_001126112.2(TP53):c.856G>A (p.Glu286Lys) rs786201059
NM_001126112.2(TP53):c.857A>G (p.Glu286Gly) rs1057519985
NM_001126112.2(TP53):c.916C>T (p.Arg306Ter) rs121913344
NM_001127500.3(MET):c.2962C>T (p.Arg988Cys) rs34589476
NM_001127500.3(MET):c.3029C>T (p.Thr1010Ile) rs56391007
NM_001127500.3(MET):c.3328G>A (p.Val1110Ile) rs786202724
NM_001127500.3(MET):c.3335A>G (p.His1112Arg) rs121913243
NM_001127500.3(MET):c.3736G>A (p.Asp1246Asn) rs121913671
NM_001127500.3(MET):c.3742T>C (p.Tyr1248His) rs121913247
NM_001127500.3(MET):c.3743A>G (p.Tyr1248Cys) rs121913246
NM_001127500.3(MET):c.3804G>A (p.Met1268Ile) rs121913676
NM_001145661.2(GATA2):c.1061C>T (p.Thr354Met) rs387906631
NM_001145661.2(GATA2):c.1192C>T (p.Arg398Trp) rs387906629
NM_001163213.1(FGFR3):c.1114G>T (p.Gly372Cys) rs121913479
NM_001163213.1(FGFR3):c.1117A>T (p.Ser373Cys) rs121913484
NM_001163213.1(FGFR3):c.1124A>G (p.Tyr375Cys) rs121913485
NM_001163213.1(FGFR3):c.1178C>A (p.Ala393Glu) rs28931615
NM_001163213.1(FGFR3):c.1663G>A (p.Val555Met) rs199544087
NM_001163213.1(FGFR3):c.1954A>C (p.Lys652Gln) rs78311289
NM_001163213.1(FGFR3):c.1954A>G (p.Lys652Glu) rs78311289
NM_001163213.1(FGFR3):c.742C>T (p.Arg248Cys) rs121913482
NM_001163213.1(FGFR3):c.746C>G (p.Ser249Cys) rs121913483
NM_001172567.2(MYD88):c.779T>C (p.Leu260Pro) rs387907272
NM_001282386.1(IDH1):c.394C>A (p.Arg132Ser) rs121913499
NM_001282386.1(IDH1):c.394C>G (p.Arg132Gly) rs121913499
NM_001282386.1(IDH1):c.394C>T (p.Arg132Cys) rs121913499
NM_001282386.1(IDH1):c.395G>A (p.Arg132His) rs121913500
NM_001282386.1(IDH1):c.395G>T (p.Arg132Leu) rs121913500
NM_001289910.1(IDH2):c.262C>T (p.Arg88Trp) rs267606870
NM_001289910.1(IDH2):c.263G>A (p.Arg88Gln) rs121913502
NM_001289910.1(IDH2):c.263G>T (p.Arg88Leu) rs121913502
NM_001289910.1(IDH2):c.359G>A (p.Arg120Lys) rs121913503
NM_001289910.1(IDH2):c.359G>T (p.Arg120Met) rs121913503
NM_001304718.2(PTEN):c.-274G>T rs1057519724
NM_001304718.2(PTEN):c.-363C>G rs121909224
NM_001349798.2(FBXW7):c.1514G>A (p.Arg505His) rs1057519896
NM_001754.4(RUNX1):c.484A>G (p.Arg162Gly) rs1057519751
NM_001754.4(RUNX1):c.601C>T (p.Arg201Ter) rs1057519748
NM_001904.4(CTNNB1):c.101G>A (p.Gly34Glu) rs28931589
NM_001904.4(CTNNB1):c.101G>T (p.Gly34Val) rs28931589
NM_001904.4(CTNNB1):c.110C>A (p.Ser37Tyr) rs121913403
NM_001904.4(CTNNB1):c.110C>G (p.Ser37Cys) rs121913403
NM_001904.4(CTNNB1):c.110C>T (p.Ser37Phe) rs121913403
NM_001904.4(CTNNB1):c.121A>G (p.Thr41Ala) rs121913412
NM_001904.4(CTNNB1):c.122C>T (p.Thr41Ile) rs121913413
NM_001904.4(CTNNB1):c.133T>C (p.Ser45Pro) rs121913407
NM_001904.4(CTNNB1):c.134C>A (p.Ser45Tyr) rs121913409
NM_001904.4(CTNNB1):c.134C>T (p.Ser45Phe) rs121913409
NM_001904.4(CTNNB1):c.94G>T (p.Asp32Tyr) rs28931588
NM_001904.4(CTNNB1):c.95A>G (p.Asp32Gly) rs121913396
NM_001904.4(CTNNB1):c.98C>A (p.Ser33Tyr) rs121913400
NM_001904.4(CTNNB1):c.98C>G (p.Ser33Cys) rs121913400
NM_001904.4(CTNNB1):c.98C>T (p.Ser33Phe) rs121913400
NM_002067.5(GNA11):c.626A>C (p.Gln209Pro) rs1057519742
NM_002067.5(GNA11):c.626A>T (p.Gln209Leu) rs1057519742
NM_002072.5(GNAQ):c.626A>C (p.Gln209Pro) rs121913492
NM_002072.5(GNAQ):c.626A>T (p.Gln209Leu) rs121913492
NM_002467.6(MYC):c.302A>C (p.Asn101Thr) rs121918683
NM_002524.5(NRAS):c.181C>A (p.Gln61Lys) rs121913254
NM_002524.5(NRAS):c.182A>C (p.Gln61Pro) rs11554290
NM_002524.5(NRAS):c.182A>G (p.Gln61Arg) rs11554290
NM_002524.5(NRAS):c.182A>T (p.Gln61Leu) rs11554290
NM_002524.5(NRAS):c.183A>C (p.Gln61His) rs121913255
NM_002524.5(NRAS):c.183A>T (p.Gln61His) rs121913255
NM_002524.5(NRAS):c.34G>A (p.Gly12Ser) rs121913250
NM_002524.5(NRAS):c.34G>C (p.Gly12Arg) rs121913250
NM_002524.5(NRAS):c.34G>T (p.Gly12Cys) rs121913250
NM_002524.5(NRAS):c.35G>A (p.Gly12Asp) rs121913237
NM_002524.5(NRAS):c.35G>C (p.Gly12Ala) rs121913237
NM_002524.5(NRAS):c.35G>T (p.Gly12Val) rs121913237
NM_002524.5(NRAS):c.37G>C (p.Gly13Arg) rs121434595
NM_002524.5(NRAS):c.38G>A (p.Gly13Asp) rs121434596
NM_002524.5(NRAS):c.38G>T (p.Gly13Val) rs121434596
NM_002755.3(MAP2K1):c.167A>C (p.Gln56Pro) rs1057519729
NM_002755.3(MAP2K1):c.171G>T (p.Lys57Asn) rs869025608
NM_002755.3(MAP2K1):c.199G>A (p.Asp67Asn) rs727504317
NM_002755.3(MAP2K1):c.362G>C (p.Cys121Ser) rs1057519731
NM_002755.3(MAP2K1):c.370C>T (p.Pro124Ser) rs1057519732
NM_002755.3(MAP2K1):c.371C>T (p.Pro124Leu) rs397516792
NM_002834.4(PTPN11):c.1508G>T (p.Gly503Val) rs397507546
NM_002834.4(PTPN11):c.214G>A (p.Ala72Thr) rs121918453
NM_002834.4(PTPN11):c.215C>T (p.Ala72Val) rs121918454
NM_002834.4(PTPN11):c.226G>A (p.Glu76Lys) rs121918464
NM_002834.4(PTPN11):c.227A>C (p.Glu76Ala) rs121918465
NM_002834.4(PTPN11):c.227A>G (p.Glu76Gly) rs121918465
NM_002880.3(RAF1):c.1472C>T (p.Thr491Ile) rs80338799
NM_002880.3(RAF1):c.1837C>G (p.Leu613Val) rs80338797
NM_002880.3(RAF1):c.769T>C (p.Ser257Pro) rs727505017
NM_002880.3(RAF1):c.770C>T (p.Ser257Leu) rs80338796
NM_002880.3(RAF1):c.776C>T (p.Ser259Phe) rs397516827
NM_002880.3(RAF1):c.781C>G (p.Pro261Ala) rs121434594
NM_002880.3(RAF1):c.781C>T (p.Pro261Ser) rs121434594
NM_002880.3(RAF1):c.782C>T (p.Pro261Leu) rs397516828
NM_002880.3(RAF1):c.788T>C (p.Val263Ala) rs397516830
NM_002944.2(ROS1):c.6094G>A (p.Gly2032Arg) rs1057519788
NM_004119.2(FLT3):c.2503_2505del (p.Asp835del) rs121913486
NM_004304.5(ALK):c.3271G>A (p.Asp1091Asn) rs864309584
NM_004304.5(ALK):c.3383G>C (p.Gly1128Ala) rs113994088
NM_004304.5(ALK):c.3452C>T (p.Thr1151Met) rs113994091
NM_004304.5(ALK):c.3520T>C (p.Phe1174Leu) rs281864719
NM_004304.5(ALK):c.3520T>G (p.Phe1174Val) rs281864719
NM_004304.5(ALK):c.3522C>A (p.Phe1174Leu) rs863225281
NM_004304.5(ALK):c.3522C>G (p.Phe1174Leu) rs863225281
NM_004304.5(ALK):c.3575G>C (p.Arg1192Pro) rs113994089
NM_004304.5(ALK):c.3733T>A (p.Phe1245Ile) rs281864720
NM_004304.5(ALK):c.3733T>G (p.Phe1245Val) rs281864720
NM_004304.5(ALK):c.3749T>C (p.Ile1250Thr) rs113994092
NM_004304.5(ALK):c.3824G>A (p.Arg1275Gln) rs113994087
NM_004333.6(BRAF):c.1390G>A (p.Gly464Arg) rs121913349
NM_004333.6(BRAF):c.1391G>A (p.Gly464Glu) rs121913348
NM_004333.6(BRAF):c.1391G>T (p.Gly464Val) rs121913348
NM_004333.6(BRAF):c.1397G>T (p.Gly466Val) rs121913351
NM_004333.6(BRAF):c.1405G>C (p.Gly469Arg) rs121913357
NM_004333.6(BRAF):c.1406G>A (p.Gly469Glu) rs121913355
NM_004333.6(BRAF):c.1406G>C (p.Gly469Ala) rs121913355
NM_004333.6(BRAF):c.1406G>T (p.Gly469Val) rs121913355
NM_004333.6(BRAF):c.1411G>T (p.Val471Phe) rs121913376
NM_004333.6(BRAF):c.1756G>A (p.Glu586Lys) rs121913340
NM_004333.6(BRAF):c.1780G>A (p.Asp594Asn) rs397516896
NM_004333.6(BRAF):c.1780G>C (p.Asp594His) rs397516896
NM_004333.6(BRAF):c.1781A>G (p.Asp594Gly) rs121913338
NM_004333.6(BRAF):c.1781A>T (p.Asp594Val) rs121913338
NM_004333.6(BRAF):c.1782T>G (p.Asp594Glu) rs121913337
NM_004333.6(BRAF):c.1783T>C (p.Phe595Leu) rs794729219
NM_004333.6(BRAF):c.1785T>A (p.Phe595Leu) rs121913341
NM_004333.6(BRAF):c.1785T>G (p.Phe595Leu) rs121913341
NM_004333.6(BRAF):c.1786G>C (p.Gly596Arg) rs121913361
NM_004333.6(BRAF):c.1787G>T (p.Gly596Val) rs397507483
NM_004333.6(BRAF):c.1789C>G (p.Leu597Val) rs121913369
NM_004333.6(BRAF):c.1790T>A (p.Leu597Gln) rs121913366
NM_004333.6(BRAF):c.1790T>G (p.Leu597Arg) rs121913366
NM_004333.6(BRAF):c.1796C>T (p.Thr599Ile) rs121913375
NM_004333.6(BRAF):c.1798G>A (p.Val600Met) rs121913378
NM_004333.6(BRAF):c.1798G>C (p.Val600Leu) rs121913378
NM_004333.6(BRAF):c.1798_1799delinsAA (p.Val600Lys) rs121913227
NM_004333.6(BRAF):c.1799T>A (p.Val600Glu) rs113488022
NM_004333.6(BRAF):c.1799T>G (p.Val600Gly) rs113488022
NM_004333.6(BRAF):c.1801A>G (p.Lys601Glu) rs121913364
NM_004333.6(BRAF):c.1802A>C (p.Lys601Thr) rs397507484
NM_004431.5(EPHA2):c.1171G>A (p.Gly391Arg) rs34192549
NM_004431.5(EPHA2):c.2162G>A (p.Arg721Gln) rs116506614
NM_004448.3(ERBB2):c.2263_2264delinsCC (p.Leu755Pro) rs121913469
NM_004448.3(ERBB2):c.2305G>C (p.Asp769His) rs121913468
NM_004448.3(ERBB2):c.2305G>T (p.Asp769Tyr) rs121913468
NM_004448.3(ERBB2):c.2326G>A (p.Gly776Ser) rs28933369
NM_004448.3(ERBB2):c.2329G>T (p.Val777Leu) rs121913471
NM_004448.3(ERBB2):c.2524G>A (p.Val842Ile) rs1057519738
NM_004448.3(ERBB2):c.2570A>G (p.Asn857Ser) rs28933370
NM_004958.4(MTOR):c.4379T>C (p.Leu1460Pro) rs1057519779
NM_004958.4(MTOR):c.4447T>C (p.Cys1483Arg) rs1057519914
NM_004958.4(MTOR):c.4448G>T (p.Cys1483Phe) rs786205165
NM_004958.4(MTOR):c.6644C>A (p.Ser2215Tyr) rs587777894
NM_004958.4(MTOR):c.6644C>T (p.Ser2215Phe) rs587777894
NM_004972.3(JAK2):c.1849G>T (p.Val617Phe) rs77375493
NM_004972.3(JAK2):c.2047A>G (p.Arg683Gly) rs1057519721
NM_004985.5(KRAS):c.35G>A (p.Gly12Asp) rs121913529
NM_004985.5(KRAS):c.35G>T (p.Gly12Val) rs121913529
NM_005157.6(ABL1):c.1052T>C (p.Met351Thr) rs121913457
NM_005157.6(ABL1):c.706G>A (p.Glu236Lys) rs387906517
NM_005157.6(ABL1):c.757T>C (p.Tyr253His) rs121913461
NM_005157.6(ABL1):c.944C>T (p.Thr315Ile) rs121913459
NM_005163.2(AKT1):c.49G>A (p.Glu17Lys) rs121434592
NM_005188.3(CBL):c.1111T>C (p.Tyr371His) rs267606706
NM_005188.3(CBL):c.1150T>C (p.Cys384Arg) rs387906664
NM_005228.5(EGFR):c.2155G>A (p.Gly719Ser) rs28929495
NM_005228.5(EGFR):c.2155G>T (p.Gly719Cys) rs28929495
NM_005228.5(EGFR):c.2156G>C (p.Gly719Ala) rs121913428
NM_005228.5(EGFR):c.2240T>C (p.Leu747Ser) rs397517097
NM_005228.5(EGFR):c.2248G>C (p.Ala750Pro) rs121913229
NM_005228.5(EGFR):c.2281G>T (p.Asp761Tyr) rs121913418
NM_005228.5(EGFR):c.2303G>T (p.Ser768Ile) rs121913465
NM_005228.5(EGFR):c.2369C>T (p.Thr790Met) rs121434569
NM_005228.5(EGFR):c.2572C>A (p.Leu858Met) rs121913443
NM_005228.5(EGFR):c.2573T>G (p.Leu858Arg) rs121434568
NM_005228.5(EGFR):c.2582T>A (p.Leu861Gln) rs121913444
NM_005228.5(EGFR):c.2582T>G (p.Leu861Arg) rs121913444
NM_005343.4(HRAS):c.181C>A (p.Gln61Lys) rs28933406
NM_005343.4(HRAS):c.182A>G (p.Gln61Arg) rs121913233
NM_005343.4(HRAS):c.34G>A (p.Gly12Ser) rs104894229
NM_005343.4(HRAS):c.34G>C (p.Gly12Arg) rs104894229
NM_005343.4(HRAS):c.34G>T (p.Gly12Cys) rs104894229
NM_005343.4(HRAS):c.35G>A (p.Gly12Asp) rs104894230
NM_005343.4(HRAS):c.35G>C (p.Gly12Ala) rs104894230
NM_005343.4(HRAS):c.35G>T (p.Gly12Val) rs104894230
NM_005343.4(HRAS):c.37G>C (p.Gly13Arg) rs104894228
NM_005343.4(HRAS):c.37G>T (p.Gly13Cys) rs104894228
NM_005343.4(HRAS):c.38G>T (p.Gly13Val) rs104894226
NM_005343.4(HRAS):c.436G>A (p.Ala146Thr) rs104894231
NM_005343.4(HRAS):c.437C>T (p.Ala146Val) rs121917759
NM_005359.5(SMAD4):c.1081C>G (p.Arg361Gly) rs80338963
NM_005359.5(SMAD4):c.1081C>T (p.Arg361Cys) rs80338963
NM_005359.5(SMAD4):c.1082G>A (p.Arg361His) rs377767347
NM_005359.5(SMAD4):c.1157G>A (p.Gly386Asp) rs121912580
NM_005373.2(MPL):c.1514G>A (p.Ser505Asn) rs121913614
NM_005373.2(MPL):c.1544G>T (p.Trp515Leu) rs121913615
NM_005417.4(SRC):c.1591C>T (p.Gln531Ter) rs121913314
NM_006164.5(NFE2L2):c.235G>A (p.Glu79Lys) rs1057519922
NM_006182.4(DDR2):c.1513G>A (p.Gly505Ser) rs115169993
NM_006206.6(PDGFRA):c.2526_2537del (p.Ile843_Asp846del) rs1553906053
NM_006206.6(PDGFRA):c.2536G>T (p.Asp846Tyr) rs121908588
NM_006218.4(PIK3CA):c.1030G>A (p.Val344Met) rs1057519942
NM_006218.4(PIK3CA):c.1258T>C (p.Cys420Arg) rs121913272
NM_006218.4(PIK3CA):c.1357G>A (p.Glu453Lys) rs1057519925
NM_006218.4(PIK3CA):c.1624G>A (p.Glu542Lys) rs121913273
NM_006218.4(PIK3CA):c.1624G>C (p.Glu542Gln) rs121913273
NM_006218.4(PIK3CA):c.1633G>A (p.Glu545Lys) rs104886003
NM_006218.4(PIK3CA):c.1633G>C (p.Glu545Gln) rs104886003
NM_006218.4(PIK3CA):c.1634A>C (p.Glu545Ala) rs121913274
NM_006218.4(PIK3CA):c.1634A>G (p.Glu545Gly) rs121913274
NM_006218.4(PIK3CA):c.1635G>T (p.Glu545Asp) rs121913275
NM_006218.4(PIK3CA):c.1636C>A (p.Gln546Lys) rs121913286
NM_006218.4(PIK3CA):c.1636C>G (p.Gln546Glu) rs121913286
NM_006218.4(PIK3CA):c.1637A>C (p.Gln546Pro) rs397517201
NM_006218.4(PIK3CA):c.1637A>G (p.Gln546Arg) rs397517201
NM_006218.4(PIK3CA):c.1637A>T (p.Gln546Leu) rs397517201
NM_006218.4(PIK3CA):c.2176G>A (p.Glu726Lys) rs867262025
NM_006218.4(PIK3CA):c.3129G>A (p.Met1043Ile) rs121913283
NM_006218.4(PIK3CA):c.3129G>T (p.Met1043Ile) rs121913283
NM_006218.4(PIK3CA):c.3139C>T (p.His1047Tyr) rs121913281
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_006218.4(PIK3CA):c.3140A>T (p.His1047Leu) rs121913279
NM_006218.4(PIK3CA):c.317G>T (p.Gly106Val) rs1057519930
NM_006218.4(PIK3CA):c.353G>A (p.Gly118Asp) rs587777790
NM_006231.3(POLE):c.857C>G (p.Pro286Arg) rs1057519943
NM_007194.4(CHEK2):c.1183G>T (p.Val395Phe) rs587780170
NM_012433.3(SF3B1):c.1998G>T (p.Lys666Asn) rs377023736
NM_014225.6(PPP2R1A):c.536C>T (p.Pro179Leu) rs786205228
NM_020975.6(RET):c.1826G>A (p.Cys609Tyr) rs77939446
NM_020975.6(RET):c.1852T>C (p.Cys618Arg) rs76262710
NM_020975.6(RET):c.1853G>A (p.Cys618Tyr) rs79781594
NM_020975.6(RET):c.1859G>A (p.Cys620Tyr) rs77503355
NM_020975.6(RET):c.1888T>C (p.Cys630Arg) rs377767404
NM_020975.6(RET):c.1900T>C (p.Cys634Arg) rs75076352
NM_020975.6(RET):c.1901G>A (p.Cys634Tyr) rs75996173
NM_020975.6(RET):c.1902C>G (p.Cys634Trp) rs77709286
NM_020975.6(RET):c.2304G>C (p.Glu768Asp) rs78014899
NM_020975.6(RET):c.2372A>T (p.Tyr791Phe) rs77724903
NM_020975.6(RET):c.2410G>C (p.Val804Leu) rs79658334
NM_020975.6(RET):c.2647_2648delinsTT (p.Ala883Phe) rs377767429
NM_020975.6(RET):c.2671T>G (p.Ser891Ala) rs75234356
NM_020975.6(RET):c.2753T>C (p.Met918Thr) rs74799832
NM_022970.3(FGFR2):c.1087+1304G>A rs121918487
NM_022970.3(FGFR2):c.1118C>G (p.Ser373Cys) rs121913477
NM_022970.3(FGFR2):c.1127A>G (p.Tyr376Cys) rs121913478
NM_022970.3(FGFR2):c.1147T>C (p.Cys383Arg) rs121913474
NM_022970.3(FGFR2):c.1648A>C (p.Asn550His) rs1057519045
NM_022970.3(FGFR2):c.1697A>C (p.Glu566Ala) rs121918506
NM_022970.3(FGFR2):c.755C>G (p.Ser252Trp) rs79184941
NM_022970.3(FGFR2):c.758C>G (p.Pro253Arg) rs77543610
NM_022970.3(FGFR2):c.870G>C (p.Trp290Cys) rs121918499
NM_023110.2(FGFR1):c.1638C>A (p.Asn546Lys) rs779707422
NM_023110.2(FGFR1):c.1966A>G (p.Lys656Glu) rs869320694
NM_030662.3(MAP2K2):c.169T>G (p.Phe57Val) rs121434498
NM_030662.3(MAP2K2):c.376A>G (p.Asn126Asp) rs1057519806
NM_033360.4(KRAS):c.175G>A (p.Ala59Thr) rs121913528
NM_033360.4(KRAS):c.182A>C (p.Gln61Pro) rs121913240
NM_033360.4(KRAS):c.182A>T (p.Gln61Leu) rs121913240
NM_033360.4(KRAS):c.183A>C (p.Gln61His) rs17851045
NM_033360.4(KRAS):c.183A>T (p.Gln61His) rs17851045
NM_033360.4(KRAS):c.34G>A (p.Gly12Ser) rs121913530
NM_033360.4(KRAS):c.34G>T (p.Gly12Cys) rs121913530
NM_033360.4(KRAS):c.351A>C (p.Lys117Asn) rs770248150
NM_033360.4(KRAS):c.35G>C (p.Gly12Ala) rs121913529
NM_033360.4(KRAS):c.38G>A (p.Gly13Asp) rs112445441
NM_033360.4(KRAS):c.38G>T (p.Gly13Val) rs112445441
NM_033360.4(KRAS):c.436G>A (p.Ala146Thr) rs121913527
NM_033360.4(KRAS):c.436G>C (p.Ala146Pro) rs121913527
NM_033360.4(KRAS):c.57G>C (p.Leu19Phe) rs121913538
NM_153759.3(DNMT3A):c.2077C>T (p.Arg693Cys) rs377577594
NM_153759.3(DNMT3A):c.2078G>A (p.Arg693His) rs147001633
NM_153759.3(DNMT3A):c.2078G>C (p.Arg693Pro) rs147001633
NM_181523.3(PIK3R1):c.1381C>T (p.Arg461Ter) rs1057519838

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