ClinVar Miner

Variants from Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden with conflicting interpretations

Location: Germany  Primary collection method: clinical testing
Minimum review status of the submission from Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden: Collection method of the submission from Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden:
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
1331 881 35 267 580 12 97 882

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
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden pathogenic likely pathogenic uncertain significance likely benign benign association drug response established risk allele risk factor other
pathogenic 0 72 20 2 2 0 2 0 2 2
likely pathogenic 61 0 24 5 2 1 1 0 0 0
uncertain significance 25 31 29 504 176 0 1 1 3 0
likely benign 0 1 37 1 91 0 0 0 0 0
benign 0 0 17 43 5 0 0 0 0 0

Submitter to submitter summary #

Total submitters: 99
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
GeneDx 0 775 0 112 244 1 28 385
CeGaT Center for Human Genetics Tuebingen 0 351 0 62 212 0 15 289
PreventionGenetics, part of Exact Sciences 0 262 0 64 185 1 15 265
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 193 0 30 142 0 8 180
Quest Diagnostics Nichols Institute San Juan Capistrano 0 287 0 45 125 0 10 180
Invitae 0 237 0 22 112 1 20 155
Genetic Services Laboratory, University of Chicago 0 187 0 46 84 1 3 134
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 104 0 25 68 0 3 96
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 156 0 40 50 1 4 95
Eurofins Ntd Llc (ga) 0 143 0 35 45 0 8 88
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital 0 231 0 23 60 0 4 87
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 61 0 35 49 0 1 85
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 0 33 13 18 0 2 66
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ 0 136 0 21 31 0 5 57
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) 0 75 0 20 34 0 1 55
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario 0 109 0 22 22 0 3 47
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 80 0 19 23 0 3 45
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 39 0 11 31 0 0 42
Clinical Genetics, Academic Medical Center 0 39 0 18 22 0 0 40
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 60 0 13 22 1 1 37
Department of Pathology and Laboratory Medicine, Sinai Health System 0 73 0 9 18 0 4 31
Mayo Clinic Laboratories, Mayo Clinic 0 130 0 22 3 0 4 29
Ambry Genetics 0 51 0 5 22 0 1 28
Mendelics 0 7 0 1 24 0 2 27
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics 0 39 0 8 15 0 3 26
Revvity Omics, Revvity 0 101 0 14 3 0 7 24
Illumina Laboratory Services, Illumina 0 37 0 11 8 0 4 23
Athena Diagnostics Inc 0 45 0 11 10 0 0 21
Clinical Genetics Laboratory, Department of Pathology, Netherlands Cancer Institute 0 73 0 10 9 0 1 20
Leiden Open Variation Database 0 22 0 2 10 0 4 16
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen 0 70 0 12 0 0 1 13
OMIM 0 11 0 3 0 5 4 12
AiLife Diagnostics, AiLife Diagnostics 0 21 0 7 1 0 3 11
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 0 14 0 2 7 0 1 10
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 9 0 0 6 0 3 9
Blueprint Genetics 0 12 0 5 0 0 3 8
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center 0 9 0 4 0 0 3 7
University of Washington Department of Laboratory Medicine, University of Washington 0 4 0 2 0 1 3 6
Fulgent Genetics, Fulgent Genetics 0 29 0 5 0 0 0 5
Kariminejad - Najmabadi Pathology & Genetics Center 0 5 0 5 0 0 0 5
Practice for Gait Abnormalities, David Pomarino, Competency Network Toe Walking c/o Practice Pomarino 0 1 0 4 0 0 1 5
CSER _CC_NCGL, University of Washington 0 5 0 1 3 0 0 4
Clinical Genetics and Genomics, Karolinska University Hospital 0 47 0 4 0 0 0 4
DASA 0 7 0 3 0 0 1 4
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 5 0 3 0 0 0 3
NIHR Bioresource Rare Diseases, University of Cambridge 0 0 0 1 0 0 2 3
Rady Children's Institute for Genomic Medicine, Rady Children's Hospital San Diego 0 7 0 3 0 0 0 3
Laboratoire de Génétique Moléculaire, CHU Bordeaux 0 3 0 2 1 0 0 3
CZECANCA consortium 0 30 0 2 0 0 1 3
Constitutional Genetics Lab, Leon Berard Cancer Center 0 5 0 2 0 0 1 3
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 6 0 3 0 0 0 3
Baylor Genetics 0 8 0 2 0 0 0 2
King Laboratory, University of Washington 0 0 0 0 1 0 1 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 0 0 0 2 0 0 2
Martin Pollak Laboratory, Beth Israel Deaconess Medical Center 0 0 2 0 0 0 0 2
PharmGKB 0 0 0 0 0 2 0 2
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 5 0 1 0 0 1 2
Cancer Genetics and Genomics Laboratory, British Columbia Cancer Agency 0 12 0 2 0 0 0 2
Department of Pathology and Molecular Medicine, Queen's University 0 5 0 1 1 0 0 2
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto 0 2 0 1 0 0 1 2
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 3 0 2 0 0 0 2
Génétique des Maladies du Développement, Hospices Civils de Lyon 0 1 0 1 0 0 1 2
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 5 0 0 0 0 2 2
Institute of Human Genetics, University Hospital Muenster 0 8 0 1 0 0 1 2
Counsyl 0 1 0 1 0 0 0 1
Natera, Inc. 0 3 0 0 1 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 0 0 1 0 0 0 1
GenMed Metabolism Lab 0 0 0 1 0 0 0 1
Northcott Neuroscience Laboratory, ANZAC Research Institute 0 0 0 0 0 0 1 1
Clinical Genomics Laboratory, Washington University in St. Louis 0 1 0 1 0 0 0 1
GeneKor MSA 0 18 0 1 0 0 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 1 0 0 0 0 1 1
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 0 0 0 1 0 0 1
Lupski Lab, Baylor-Hopkins CMG, Baylor College of Medicine 0 0 0 0 0 0 1 1
Oxford Medical Genetics Laboratories, Oxford University Hospitals NHS Foundation Trust 0 0 0 1 0 0 0 1
Aziz Sancar Institute of Experimental Medicine, Istanbul University 0 0 0 0 0 1 0 1
Institute for Medical Genetics and Human Genetics, Charité - Universitätsmedizin Berlin 0 0 0 1 0 0 0 1
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute 0 0 0 1 0 0 0 1
Equipe Genetique des Anomalies du Developpement, Université de Bourgogne 0 2 0 1 0 0 0 1
Oxford Haemato-Oncology Service, Oxford University Hospitals NHS Foundation Trust 0 0 0 0 0 1 0 1
Endocrine oncology group, Uppsala University 0 0 0 1 0 0 0 1
Yale Center for Mendelian Genomics, Yale University 0 0 0 1 0 0 0 1
Center for Personalized Medicine, Children's Hospital Los Angeles 0 1 0 1 0 0 0 1
Seattle Children's Hospital Molecular Genetics Laboratory, Seattle Children's Hospital 0 0 0 1 0 0 0 1
Broad Center for Mendelian Genomics, Broad Institute of MIT and Harvard 0 0 0 0 1 0 0 1
Gharavi Laboratory, Columbia University 0 4 0 0 1 0 0 1
Institute of Reproductive Genetics, University of Münster 0 2 0 0 0 0 1 1
Department of Genetics, Rouen University Hospital, Normandy Center for Genomic and Personalized Medicine 0 2 0 0 0 0 1 1
Biesecker Lab Rare Disease, National Institutes of Health 0 0 0 1 0 0 0 1
CFTR-France 0 1 0 1 0 0 0 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 6 0 0 1 0 0 1
Pediatric Oncology, Johns Hopkins University 0 0 0 0 1 0 0 1
Molecular Genetics laboratory, Necker Hospital 0 2 0 1 0 0 0 1
MAGI's Lab - Research, MAGI Group 0 0 0 1 0 0 0 1
Molecular Genetics of Inherited Kidney Disorders Laboratory, Garvan Institute of Medical Research 0 0 0 1 0 0 0 1
ClinGen Malignant Hyperthermia Susceptibility Variant Curation Expert Panel, ClinGen 0 1 0 0 1 0 0 1
Laan Lab, Human Genetics Research Group, University of Tartu 0 1 0 0 0 0 1 1
Institute of Medical and Molecular Genetics, Hospital Universitario La Paz 0 0 0 1 0 0 0 1
James Bennett Lab, Seattle Childrens Research Institute 0 0 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 882
Download table as spreadsheet
HGVS dbSNP gnomAD frequency
NM_014694.4(ADAMTSL2):c.1090G>A (p.Val364Ile) rs35767802 0.24762
NM_000017.4(ACADS):c.625G>A (p.Gly209Ser) rs1799958 0.20617
NM_014694.4(ADAMTSL2):c.2022C>T (p.Pro674=) rs534165083 0.12965
NM_000402.4(G6PD):c.466A>G (p.Asn156Asp) rs1050829 0.08672
NM_021922.3(FANCE):c.611C>T (p.Ser204Leu) rs7761870 0.03770
NM_000402.4(G6PD):c.292G>A (p.Val98Met) rs1050828 0.03616
NM_006610.4(MASP2):c.359A>G (p.Asp120Gly) rs72550870 0.02284
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117 0.01834
NM_024675.4(PALB2):c.2993G>A (p.Gly998Glu) rs45551636 0.01717
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967 0.01348
NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln) rs607969 0.01309
NM_152383.5(DIS3L2):c.265-15C>A rs114804860 0.01092
NM_024642.5(GALNT12):c.781G>A (p.Asp261Asn) rs41306504 0.01010
NM_003000.3(SDHB):c.487T>C (p.Ser163Pro) rs33927012 0.00921
NM_032638.5(GATA2):c.481C>G (p.Pro161Ala) rs34799090 0.00854
NM_001083116.3(PRF1):c.755A>G (p.Asn252Ser) rs28933375 0.00756
NM_005631.5(SMO):c.808G>A (p.Val270Ile) rs111694017 0.00740
NM_003002.4(SDHD):c.34G>A (p.Gly12Ser) rs34677591 0.00706
NM_003001.5(SDHC):c.*84G>C rs201210474 0.00703
NM_000038.6(APC):c.5265G>A (p.Ala1755=) rs34506289 0.00675
NM_000368.5(TSC1):c.2626-3C>T rs1060503192 0.00608
NM_022725.4(FANCF):c.373G>A (p.Asp125Asn) rs61752920 0.00605
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833 0.00597
NM_002109.6(HARS1):c.14C>A (p.Ala5Glu) rs78741041 0.00588
NM_032444.4(SLX4):c.5501A>G (p.Asn1834Ser) rs111738042 0.00575
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) rs1801166 0.00570
NM_015570.4(AUTS2):c.2784C>T (p.Ala928=) rs79439293 0.00558
NM_006236.3(POU3F3):c.549C>T (p.His183=) rs993106557 0.00531
NM_058216.3(RAD51C):c.572-17G>T rs193023469 0.00513
NM_000059.4(BRCA2):c.5199C>T (p.Ser1733=) rs28897734 0.00488
NM_000250.2(MPO):c.2031-2A>C rs35897051 0.00472
NM_005236.3(ERCC4):c.1135C>T (p.Pro379Ser) rs1799802 0.00471
NM_003000.3(SDHB):c.24C>T (p.Ser8=) rs148738139 0.00461
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961 0.00434
NM_004656.4(BAP1):c.2057-4G>T rs149499021 0.00433
NM_000245.4(MET):c.504G>T (p.Glu168Asp) rs55985569 0.00420
NM_002439.5(MSH3):c.2254-19T>G rs41562717 0.00405
NM_005591.4(MRE11):c.1475C>A (p.Ala492Asp) rs61749249 0.00399
NM_001042492.3(NF1):c.528T>A (p.Asp176Glu) rs112306990 0.00398
NM_004360.5(CDH1):c.532-18C>T rs200673941 0.00398
NM_000552.5(VWF):c.2561G>A (p.Arg854Gln) rs41276738 0.00377
NM_004260.4(RECQL4):c.3314G>A (p.Gly1105Asp) rs36078464 0.00371
NM_000123.4(ERCC5):c.945C>T (p.His315=) rs34061299 0.00370
NM_000016.6(ACADM):c.985A>G (p.Lys329Glu) rs77931234 0.00363
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys) rs4988345 0.00363
NM_003238.6(TGFB2):c.619G>C (p.Val207Leu) rs10482810 0.00359
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys) rs72541816 0.00358
NM_004260.4(RECQL4):c.543G>A (p.Gln181=) rs34159914 0.00353
NM_000275.3(OCA2):c.1327G>A (p.Val443Ile) rs121918166 0.00350
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr) rs61758784 0.00349
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_002661.5(PLCG2):c.1444T>C (p.Tyr482His) rs187956469 0.00341
NM_001394062.1(MACF1):c.7194C>A (p.Ala2398=) rs141334491 0.00339
NM_000222.3(KIT):c.-14T>A rs140909964 0.00332
NM_000222.3(KIT):c.1383A>G (p.Thr461=) rs151016327 0.00324
NM_016038.4(SBDS):c.258+2T>C rs113993993 0.00323
NM_001005498.4(RHBDF2):c.1495G>T (p.Asp499Tyr) rs11553545 0.00322
NM_018062.4(FANCL):c.112C>T (p.Leu38Phe) rs55849827 0.00322
NM_000070.3(CAPN3):c.1746-20C>G rs201892814 0.00320
NM_001365951.3(KIF1B):c.2115+7031T>C rs149267056 0.00320
NM_198253.3(TERT):c.1234C>T (p.His412Tyr) rs34094720 0.00316
NM_004360.5(CDH1):c.1774G>A (p.Ala592Thr) rs35187787 0.00311
NM_020975.6(RET):c.166C>A (p.Leu56Met) rs145633958 0.00310
NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485 0.00307
NM_000548.5(TSC2):c.4285G>T (p.Ala1429Ser) rs45474795 0.00306
NM_032043.3(BRIP1):c.577G>A (p.Val193Ile) rs4988346 0.00305
NM_152383.5(DIS3L2):c.*13G>A rs200467865 0.00304
NM_000057.4(BLM):c.2160C>T (p.Ile720=) rs28385028 0.00303
NM_032444.4(SLX4):c.3857C>T (p.Ala1286Val) rs149011965 0.00302
NM_022124.6(CDH23):c.2878G>A (p.Glu960Lys) rs111033458 0.00299
NM_021922.3(FANCE):c.1510-11C>T rs189384185 0.00297
NM_004364.5(CEBPA):c.402G>A (p.Ala134=) rs752254340 0.00295
NM_005732.4(RAD50):c.3879C>T (p.Ile1293=) rs28903094 0.00293
NM_006231.4(POLE):c.16G>C (p.Gly6Arg) rs202220778 0.00293
NM_005045.4(RELN):c.3651C>G (p.Ile1217Met) rs56342240 0.00287
NM_024675.4(PALB2):c.2590C>T (p.Pro864Ser) rs45568339 0.00287
NM_004260.4(RECQL4):c.1954G>A (p.Val652Met) rs61754061 0.00285
NM_001113378.2(FANCI):c.1573A>G (p.Met525Val) rs144908351 0.00282
NM_000057.4(BLM):c.1928G>A (p.Arg643His) rs12720097 0.00278
NM_001005498.4(RHBDF2):c.1396C>T (p.Arg466Trp) rs143503813 0.00278
NM_000553.6(WRN):c.3785C>G (p.Thr1262Arg) rs78488552 0.00276
NM_000136.3(FANCC):c.584A>T (p.Asp195Val) rs1800365 0.00275
NM_000107.3(DDB2):c.1228G>A (p.Ala410Thr) rs143049891 0.00270
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954 0.00268
NM_000107.3(DDB2):c.738G>A (p.Thr246=) rs144266685 0.00268
NM_000548.5(TSC2):c.5359G>A (p.Gly1787Ser) rs45517419 0.00264
NM_001194998.2(CEP152):c.2878T>C (p.Trp960Arg) rs201342438 0.00263
NM_000551.4(VHL):c.74C>T (p.Pro25Leu) rs35460768 0.00261
NM_001039141.3(TRIOBP):c.584C>T (p.Thr195Ile) rs143157673 0.00258
NM_005592.4(MUSK):c.1931T>C (p.Val644Ala) rs41279055 0.00255
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser) rs143638171 0.00250
NM_017763.6(RNF43):c.1010G>A (p.Arg337Gln) rs138844366 0.00248
NM_004260.4(RECQL4):c.1390+3G>A rs148912524 0.00246
NM_003072.5(SMARCA4):c.2275-3C>A rs117611401 0.00243
NM_005027.4(PIK3R2):c.160G>A (p.Val54Met) rs201370957 0.00242
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749 0.00239
NM_020361.5(CPA6):c.799G>A (p.Gly267Arg) rs61738009 0.00239
NM_207122.2(EXT2):c.710C>T (p.Ser237Leu) rs139525250 0.00236
NM_004168.4(SDHA):c.313-19G>T rs185555941 0.00235
NM_002439.5(MSH3):c.2732T>G (p.Leu911Trp) rs41545019 0.00233
NM_007294.4(BRCA1):c.114G>A (p.Lys38=) rs1800062 0.00233
NM_000548.5(TSC2):c.1747G>A (p.Ala583Thr) rs1800729 0.00231
NM_005045.4(RELN):c.7438G>A (p.Gly2480Ser) rs150236371 0.00231
NM_000135.4(FANCA):c.1874G>C (p.Cys625Ser) rs139235751 0.00230
NM_000465.4(BARD1):c.1977A>G (p.Arg659=) rs147215925 0.00230
NM_000077.5(CDKN2A):c.458-491C>T rs181044510 0.00229
NM_001364905.1(LRBA):c.1399A>G (p.Met467Val) rs116355217 0.00225
NM_001382430.1(AKT1):c.1020C>T (p.Tyr340=) rs144088506 0.00224
NM_006767.4(LZTR1):c.2187C>T (p.Tyr729=) rs117346988 0.00222
NM_000548.5(TSC2):c.3889G>A (p.Ala1297Thr) rs45517319 0.00219
NM_144997.7(FLCN):c.1333G>A (p.Ala445Thr) rs41419545 0.00217
NM_000077.5(CDKN2A):c.150+37G>C rs45456595 0.00212
NM_021922.3(FANCE):c.253C>T (p.Pro85Ser) rs145068586 0.00212
NM_005732.4(RAD50):c.980G>A (p.Arg327His) rs28903091 0.00207
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser) rs147241704 0.00207
NM_198253.3(TERT):c.3105C>T (p.Val1035=) rs181612536 0.00207
NM_002485.5(NBN):c.643C>T (p.Arg215Trp) rs34767364 0.00206
NM_000135.4(FANCA):c.1830A>G (p.Ala610=) rs1800338 0.00201
NM_003977.4(AIP):c.47G>A (p.Arg16His) rs145047094 0.00197
NM_000553.6(WRN):c.2983G>A (p.Ala995Thr) rs140768346 0.00193
NM_005236.3(ERCC4):c.2117T>C (p.Ile706Thr) rs1800069 0.00190
NM_001042492.3(NF1):c.7531G>C (p.Val2511Leu) rs2230850 0.00189
NM_000051.4(ATM):c.1229T>C (p.Val410Ala) rs56128736 0.00186
NM_000059.4(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710 0.00182
NM_000535.7(PMS2):c.23+10G>C rs192027828 0.00182
NM_003001.5(SDHC):c.*78G>A rs182629842 0.00182
NM_004771.4(MMP20):c.389C>T (p.Thr130Ile) rs61730849 0.00180
NM_004655.4(AXIN2):c.2272G>A (p.Ala758Thr) rs145007501 0.00179
NM_000465.4(BARD1):c.33G>T (p.Gln11His) rs143914387 0.00176
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser) rs146077918 0.00172
NM_006231.4(POLE):c.4523G>A (p.Arg1508His) rs142508245 0.00170
NM_000553.6(WRN):c.1717A>G (p.Thr573Ala) rs150148567 0.00169
NM_016327.3(UPB1):c.917-1G>A rs143493067 0.00169
NM_000314.8(PTEN):c.132C>T (p.Gly44=) rs150651961 0.00168
NM_001003841.3(SLC6A19):c.517G>A (p.Asp173Asn) rs121434346 0.00168
NM_053025.4(MYLK):c.399G>T (p.Gln133His) rs140148380 0.00167
NM_177438.3(DICER1):c.20A>G (p.Gln7Arg) rs117358479 0.00165
NM_000260.4(MYO7A):c.1007G>A (p.Arg336His) rs45629132 0.00164
NM_000540.3(RYR1):c.12884C>T (p.Ala4295Val) rs193922855 0.00163
NM_003072.5(SMARCA4):c.3045C>T (p.Gly1015=) rs56101423 0.00163
NM_020937.4(FANCM):c.171G>C (p.Leu57Phe) rs142007602 0.00161
NM_002693.3(POLG):c.1760C>T (p.Pro587Leu) rs113994096 0.00160
NM_004972.4(JAK2):c.3178-12_3178-11insC rs533264615 0.00160
NM_006361.6(HOXB13):c.251G>A (p.Gly84Glu) rs138213197 0.00160
NM_002691.4(POLD1):c.80A>T (p.Asp27Val) rs150066950 0.00159
NM_002693.3(POLG):c.752C>T (p.Thr251Ile) rs113994094 0.00159
NM_004260.4(RECQL4):c.615C>G (p.Pro205=) rs35639991 0.00159
NM_004360.5(CDH1):c.2292C>T (p.Asp764=) rs61747636 0.00159
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys) rs4987046 0.00158
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747 0.00158
NM_000123.4(ERCC5):c.1789G>C (p.Val597Leu) rs4150319 0.00158
NM_000321.3(RB1):c.380+10C>G rs187110786 0.00158
NM_002528.7(NTHL1):c.503T>C (p.Ile168Thr) rs1805378 0.00155
NM_006767.4(LZTR1):c.1530C>T (p.His510=) rs190714197 0.00155
NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn) rs142155101 0.00153
NM_001064.4(TKT):c.1177T>C (p.Phe393Leu) rs138820989 0.00151
NM_001519.4(BRF1):c.696G>A (p.Ala232=) rs142328073 0.00151
NM_000553.6(WRN):c.1149G>T (p.Leu383Phe) rs4987238 0.00148
NM_000875.5(IGF1R):c.1336A>G (p.Met446Val) rs117440569 0.00148
NM_020937.4(FANCM):c.1576C>G (p.Leu526Val) rs144215747 0.00147
NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu) rs80358600 0.00146
NM_005732.4(RAD50):c.379G>A (p.Val127Ile) rs28903086 0.00146
NM_002485.5(NBN):c.511A>G (p.Ile171Val) rs61754966 0.00145
NM_000038.6(APC):c.6921G>A (p.Ser2307=) rs2229993 0.00143
NM_002439.5(MSH3):c.1992G>A (p.Gln664=) rs144019582 0.00143
NM_004360.5(CDH1):c.1272C>T (p.Val424=) rs61756284 0.00143
NM_024570.4(RNASEH2B):c.529G>A (p.Ala177Thr) rs75184679 0.00141
NM_000057.4(BLM):c.2263A>G (p.Lys755Glu) rs142551229 0.00140
NM_000051.4(ATM):c.1066-6T>G rs201686625 0.00139
NM_000368.5(TSC1):c.3103G>A (p.Gly1035Ser) rs118203742 0.00139
NM_001353345.2(SETD1B):c.3587T>A (p.Val1196Glu) rs188280904 0.00139
NM_016169.4(SUFU):c.910+14C>T rs202247757 0.00139
NM_002528.7(NTHL1):c.244C>T (p.Gln82Ter) rs150766139 0.00138
NM_002354.3(EPCAM):c.831A>G (p.Ile277Met) rs115283528 0.00135
NM_004260.4(RECQL4):c.716C>T (p.Ala239Val) rs146709578 0.00129
NM_024642.5(GALNT12):c.907G>A (p.Asp303Asn) rs145236923 0.00129
NM_000059.4(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747 0.00127
NM_000136.3(FANCC):c.632C>G (p.Pro211Arg) rs140781259 0.00126
NM_005228.5(EGFR):c.889+18G>T rs41323746 0.00126
NM_000135.4(FANCA):c.2859C>G (p.Asp953Glu) rs149112292 0.00125
NM_000222.3(KIT):c.1588G>A (p.Val530Ile) rs72550822 0.00125
NM_032444.4(SLX4):c.2359G>A (p.Glu787Lys) rs140600202 0.00125
NM_000051.4(ATM):c.6067G>A (p.Gly2023Arg) rs11212587 0.00124
NM_002878.4(RAD51D):c.263+1588A>G rs180869630 0.00123
NM_017950.4(CCDC40):c.3046G>A (p.Val1016Ile) rs117307093 0.00123
NM_006231.4(POLE):c.861T>A (p.Asp287Glu) rs139075637 0.00122
NM_001291303.3(FAT4):c.8021A>T (p.Asp2674Val) rs138655269 0.00121
NM_020361.5(CPA6):c.619C>G (p.Gln207Glu) rs35993949 0.00121
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp) rs45478192 0.00121
NM_004260.4(RECQL4):c.3443C>T (p.Ser1148Phe) rs35346077 0.00119
NM_032444.4(SLX4):c.2305G>C (p.Glu769Gln) rs150712805 0.00119
NM_000553.6(WRN):c.4216C>T (p.Arg1406Ter) rs11574410 0.00118
NM_015631.6(TCTN3):c.946A>G (p.Thr316Ala) rs200042949 0.00118
NM_003184.4(TAF2):c.157A>G (p.Ile53Val) rs112002462 0.00117
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_000123.4(ERCC5):c.3356C>T (p.Ala1119Val) rs2227871 0.00116
NM_000057.4(BLM):c.3849G>A (p.Gln1283=) rs140524886 0.00115
NM_001005273.3(CHD3):c.3417G>T (p.Gly1139=) rs61753146 0.00115
NM_003977.4(AIP):c.911G>A (p.Arg304Gln) rs104894190 0.00115
NM_000123.4(ERCC5):c.2818G>A (p.Val940Met) rs146344855 0.00113
NM_032043.3(BRIP1):c.890A>G (p.Lys297Arg) rs28997570 0.00113
NM_002439.5(MSH3):c.2041C>T (p.Pro681Ser) rs115198722 0.00112
NM_001370259.2(MEN1):c.30G>T (p.Leu10=) rs371192390 0.00111
NM_152564.5(VPS13B):c.1248G>T (p.Gln416His) rs143024324 0.00111
NM_144670.6(A2ML1):c.4061+1G>A rs202067416 0.00108
NM_000492.4(CFTR):c.2900T>C (p.Leu967Ser) rs1800110 0.00106
NM_000271.5(NPC1):c.3217G>A (p.Gly1073Ser) rs141440861 0.00105
NM_000368.5(TSC1):c.-7C>T rs62621221 0.00105
NM_020937.4(FANCM):c.5101C>T (p.Gln1701Ter) rs147021911 0.00104
NM_032043.3(BRIP1):c.790C>T (p.Arg264Trp) rs28997569 0.00104
NM_000057.4(BLM):c.11T>C (p.Val4Ala) rs144706057 0.00102
NM_022437.3(ABCG8):c.1083G>A (p.Trp361Ter) rs137852987 0.00102
NM_001040108.2(MLH3):c.3488G>A (p.Gly1163Asp) rs28757011 0.00100
NM_022437.3(ABCG8):c.712G>A (p.Glu238Lys) rs34754243 0.00100
NM_005236.3(ERCC4):c.1563C>G (p.Ser521Arg) rs41552412 0.00099
NM_000264.5(PTCH1):c.2173C>T (p.Pro725Ser) rs149258400 0.00098
NM_001082486.2(ACD):c.613A>G (p.Thr205Ala) rs139438549 0.00098
NM_000059.4(BRCA2):c.2883G>A (p.Gln961=) rs11571655 0.00097
NM_002382.5(MAX):c.172-6230G>A rs148339628 0.00097
NM_004168.4(SDHA):c.1396G>A (p.Ala466Thr) rs111387770 0.00097
NM_000051.4(ATM):c.6860G>C (p.Gly2287Ala) rs1800061 0.00096
NM_000038.6(APC):c.7514G>A (p.Arg2505Gln) rs147549623 0.00093
NM_032634.4(PIGO):c.3163T>C (p.Phe1055Leu) rs147316771 0.00093
NM_001365951.3(KIF1B):c.3645G>A (p.Pro1215=) rs147318592 0.00092
NM_000136.3(FANCC):c.178G>A (p.Val60Ile) rs138629441 0.00091
NM_001365951.3(KIF1B):c.2115+6581G>A rs41274460 0.00089
NM_000038.6(APC):c.6821C>T (p.Ala2274Val) rs34919187 0.00088
NM_000198.4(HSD3B2):c.500C>T (p.Ala167Val) rs35486059 0.00087
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn) rs41294980 0.00087
NM_032444.4(SLX4):c.1372A>G (p.Lys458Glu) rs149126845 0.00087
NM_006206.6(PDGFRA):c.599C>G (p.Thr200Ser) rs149951350 0.00086
NM_020937.4(FANCM):c.1237T>C (p.Tyr413His) rs138225703 0.00086
NM_004655.4(AXIN2):c.1985T>C (p.Leu662Pro) rs142476324 0.00084
NM_001042492.3(NF1):c.3468C>T (p.Asn1156=) rs147955381 0.00083
NM_001083116.3(PRF1):c.1620A>G (p.Gln540=) rs149776121 0.00083
NM_020937.4(FANCM):c.3296G>A (p.Arg1099His) rs139382267 0.00083
NM_000059.4(BRCA2):c.978C>A (p.Ser326Arg) rs28897706 0.00082
NM_001005498.4(RHBDF2):c.510G>A (p.Pro170=) rs140265206 0.00082
NM_006231.4(POLE):c.139C>T (p.Arg47Trp) rs143626223 0.00082
NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys) rs150792276 0.00081
NM_004329.3(BMPR1A):c.1327C>T (p.Arg443Cys) rs35619497 0.00081
NM_025216.3(WNT10A):c.337C>T (p.Arg113Cys) rs141074983 0.00080
NM_002691.4(POLD1):c.2565-17G>A rs200576676 0.00078
NM_000123.4(ERCC5):c.2534-10T>G rs199562917 0.00077
NM_001211.6(BUB1B):c.3094A>C (p.Asn1032His) rs34700927 0.00077
NM_015909.4(NBAS):c.3361-19A>G rs201607999 0.00075
NM_017763.6(RNF43):c.1825C>T (p.Arg609Trp) rs139405076 0.00075
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475 0.00074
NM_000548.5(TSC2):c.2476C>A (p.Leu826Met) rs45517238 0.00073
NM_004793.4(LONP1):c.1876G>A (p.Val626Met) rs147307965 0.00073
NM_006231.4(POLE):c.3718G>A (p.Glu1240Lys) rs113594027 0.00073
NM_152383.5(DIS3L2):c.1447C>G (p.Arg483Gly) rs186865544 0.00073
NM_001001548.3(CD36):c.1156C>T (p.Arg386Trp) rs148910227 0.00072
NM_001113378.2(FANCI):c.824T>C (p.Ile275Thr) rs142906652 0.00071
NM_032444.4(SLX4):c.4261A>T (p.Ile1421Phe) rs141567438 0.00069
NM_000245.4(MET):c.1039G>A (p.Ala347Thr) rs200074800 0.00068
NM_152564.5(VPS13B):c.1768G>A (p.Ala590Thr) rs140601319 0.00068
NM_212482.4(FN1):c.5435-7T>C rs202045892 0.00068
NM_000264.5(PTCH1):c.3155C>T (p.Thr1052Met) rs138911275 0.00066
NM_003072.5(SMARCA4):c.223-5C>T rs376775933 0.00066
NM_003977.4(AIP):c.896C>T (p.Ala299Val) rs148986773 0.00065
NM_005732.4(RAD50):c.671G>A (p.Arg224His) rs28903088 0.00065
NM_000123.4(ERCC5):c.3106G>A (p.Ala1036Thr) rs144208043 0.00064
NM_000179.3(MSH6):c.663A>C (p.Glu221Asp) rs41557217 0.00064
NM_006206.6(PDGFRA):c.1325T>C (p.Leu442Pro) rs139236922 0.00064
NM_020937.4(FANCM):c.2859A>C (p.Lys953Asn) rs142864437 0.00064
NM_000264.5(PTCH1):c.37C>G (p.Arg13Gly) rs779791579 0.00063
NM_001211.6(BUB1B):c.1001C>T (p.Pro334Leu) rs141953425 0.00063
NM_002693.3(POLG):c.1402A>G (p.Asn468Asp) rs145843073 0.00063
NM_002691.4(POLD1):c.455C>T (p.Ala152Val) rs41563714 0.00062
NM_000136.3(FANCC):c.1329+212C>T rs41281200 0.00061
NM_001164508.2(NEB):c.23989C>T (p.Arg7997Ter) rs549794342 0.00061
NM_201384.3(PLEC):c.9049C>T (p.Arg3017Trp) rs201041716 0.00061
NM_000545.8(HNF1A):c.1748G>A (p.Arg583Gln) rs137853242 0.00060
NM_004168.4(SDHA):c.133G>A (p.Ala45Thr) rs140736646 0.00060
NM_000179.3(MSH6):c.1508C>G (p.Ser503Cys) rs63750897 0.00059
NM_000222.3(KIT):c.1195G>A (p.Val399Ile) rs143707288 0.00059
NM_000321.3(RB1):c.1966C>T (p.Arg656Trp) rs142509759 0.00059
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala) rs146176004 0.00059
NM_003235.5(TG):c.455G>A (p.Arg152His) rs114781869 0.00059
NM_022124.6(CDH23):c.7823G>A (p.Arg2608His) rs202052174 0.00059
NM_000245.4(MET):c.406G>A (p.Val136Ile) rs199701987 0.00058
NM_004329.3(BMPR1A):c.1419T>G (p.Val473=) rs145756629 0.00058
NM_016239.4(MYO15A):c.7984C>G (p.Leu2662Val) rs200930743 0.00058
NM_024675.4(PALB2):c.2851T>C (p.Ser951Pro) rs149522412 0.00058
NM_144997.7(FLCN):c.871+47G>A rs142934950 0.00058
NM_000264.5(PTCH1):c.3487G>A (p.Gly1163Ser) rs113663584 0.00057
NM_022132.5(MCCC2):c.1015G>A (p.Val339Met) rs150591260 0.00057
NM_000057.4(BLM):c.968A>G (p.Lys323Arg) rs146504061 0.00056
NM_001384474.1(LOXHD1):c.889A>C (p.Thr297Pro) rs117747744 0.00056
NM_001379610.1(SPINK1):c.194G>A (p.Arg65Gln) rs141634296 0.00055
NM_024675.4(PALB2):c.2749-18C>T rs182194007 0.00055
NM_000548.5(TSC2):c.5131G>A (p.Val1711Met) rs139779505 0.00054
NM_002291.3(LAMB1):c.3038G>A (p.Arg1013Gln) rs141390544 0.00054
NM_001005498.4(RHBDF2):c.853G>A (p.Ala285Thr) rs140433374 0.00052
NM_000136.3(FANCC):c.934A>G (p.Ile312Val) rs1800366 0.00051
NM_000455.5(STK11):c.1211C>T (p.Ser404Phe) rs200078204 0.00051
NM_000551.4(VHL):c.463+8C>T rs5030834 0.00051
NM_001048174.2(MUTYH):c.841C>T (p.Arg281Cys) rs138089183 0.00051
NM_001379610.1(SPINK1):c.-22C>T rs190219062 0.00051
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys) rs77130927 0.00051
NM_000548.5(TSC2):c.1070C>T (p.Ala357Val) rs150195368 0.00050
NM_004484.4(GPC3):c.660C>T (p.Ser220=) rs138450923 0.00050
NM_005359.6(SMAD4):c.880A>G (p.Met294Val) rs7238500 0.00050
NM_001242896.3(DEPDC5):c.1525C>T (p.Arg509Cys) rs202083639 0.00049
NM_006767.4(LZTR1):c.652-10C>A rs200169897 0.00049
NM_145207.3(AFG2A):c.1159C>T (p.Pro387Ser) rs201751275 0.00049
NM_000038.6(APC):c.295C>T (p.Arg99Trp) rs139196838 0.00048
NM_000135.4(FANCA):c.3427C>G (p.Leu1143Val) rs61753269 0.00048
NM_001005498.4(RHBDF2):c.1486A>G (p.Lys496Glu) rs150723002 0.00048
NM_002485.5(NBN):c.628G>T (p.Val210Phe) rs61754796 0.00047
NM_006231.4(POLE):c.5659G>A (p.Val1887Met) rs114119067 0.00047
NM_020975.6(RET):c.3112A>G (p.Thr1038Ala) rs201740483 0.00047
NM_023110.3(FGFR1):c.1368G>T (p.Met456Ile) rs200776757 0.00047
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala) rs140856217 0.00046
NM_004304.5(ALK):c.4255G>A (p.Glu1419Lys) rs56181542 0.00046
NM_024642.5(GALNT12):c.889C>T (p.Arg297Trp) rs149726976 0.00046
NM_000222.3(KIT):c.200C>G (p.Thr67Ser) rs144933028 0.00045
NM_001048174.2(MUTYH):c.914-9C>T rs3219488 0.00045
NM_001270508.2(TNFAIP3):c.2364G>A (p.Met788Ile) rs143002189 0.00045
NM_002691.4(POLD1):c.2052G>C (p.Gln684His) rs144143245 0.00045
NM_002485.5(NBN):c.1720T>A (p.Leu574Ile) rs142334798 0.00044
NM_002887.4(RARS1):c.1367C>T (p.Ser456Leu) rs139644798 0.00044
NM_000264.5(PTCH1):c.4324C>T (p.Arg1442Trp) rs143464326 0.00043
NM_177438.3(DICER1):c.438+11T>C rs376038413 0.00043
NM_023110.3(FGFR1):c.899T>C (p.Ile300Thr) rs121909633 0.00042
NM_000053.4(ATP7B):c.1934T>G (p.Met645Arg) rs121907998 0.00041
NM_000127.3(EXT1):c.1536+7G>A rs200128437 0.00041
NM_000368.5(TSC1):c.2285A>G (p.Asn762Ser) rs118203670 0.00041
NM_001048174.2(MUTYH):c.1174C>A (p.Leu392Met) rs144079536 0.00041
NM_001242896.3(DEPDC5):c.3092C>A (p.Pro1031His) rs376744360 0.00041
NM_002691.4(POLD1):c.3068-14C>T rs3218758 0.00041
NM_032043.3(BRIP1):c.2220G>T (p.Gln740His) rs45589637 0.00041
NM_001365951.3(KIF1B):c.2618C>T (p.Thr873Ile) rs121908162 0.00040
NM_000551.4(VHL):c.241C>T (p.Pro81Ser) rs104893829 0.00039
NM_020975.6(RET):c.1946C>T (p.Ser649Leu) rs148935214 0.00039
NM_000051.4(ATM):c.7390T>C (p.Cys2464Arg) rs55801750 0.00038
NM_001395891.1(CLASP1):c.196-567G>A rs559979281 0.00038
NM_002878.4(RAD51D):c.26G>C (p.Cys9Ser) rs140825795 0.00037
NM_003977.4(AIP):c.26G>A (p.Arg9Gln) rs139459091 0.00037
NM_007194.4(CHEK2):c.*18C>T rs17884403 0.00037
NM_000264.5(PTCH1):c.4325G>A (p.Arg1442Gln) rs56023271 0.00036
NM_000277.3(PAH):c.1139C>T (p.Thr380Met) rs62642937 0.00036
NM_000393.5(COL5A2):c.4067A>G (p.Asp1356Gly) rs140952583 0.00036
NM_022455.5(NSD1):c.3215G>A (p.Arg1072Gln) rs28932180 0.00036
NM_032444.4(SLX4):c.2681T>G (p.Val894Gly) rs145137472 0.00036
NM_000222.3(KIT):c.821C>T (p.Thr274Met) rs138585275 0.00035
NM_000051.4(ATM):c.2932T>C (p.Ser978Pro) rs139552233 0.00034
NM_001040108.2(MLH3):c.1637G>T (p.Arg546Ile) rs55725216 0.00034
NM_005228.5(EGFR):c.3629C>T (p.Ala1210Val) rs35918369 0.00034
NM_006206.6(PDGFRA):c.1285G>A (p.Gly429Arg) rs150577828 0.00034
NM_006767.4(LZTR1):c.2190C>T (p.Gly730=) rs144092577 0.00034
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883 0.00034
NM_018062.4(FANCL):c.1007_1009del (p.Ile336_Cys337delinsSer) rs747253294 0.00034
NM_024426.6(WT1):c.662-6C>A rs372418954 0.00034
NM_000051.4(ATM):c.2494C>T (p.Arg832Cys) rs2229022 0.00032
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_000038.6(APC):c.7490C>T (p.Ser2497Leu) rs141010008 0.00031
NM_000057.4(BLM):c.3625T>A (p.Ser1209Thr) rs1801256 0.00031
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val) rs79538375 0.00031
NM_000251.3(MSH2):c.435T>G (p.Ile145Met) rs63750124 0.00031
NM_001077350.3(NPRL3):c.1268C>T (p.Pro423Leu) rs200792895 0.00031
NM_004260.4(RECQL4):c.2967G>A (p.Met989Ile) rs200018416 0.00031
NM_004655.4(AXIN2):c.1685C>T (p.Pro562Leu) rs149764887 0.00031
NM_018082.6(POLR3B):c.1568T>A (p.Val523Glu) rs138249161 0.00031
NM_022124.6(CDH23):c.10021C>T (p.Arg3341Cys) rs370074117 0.00031
NM_032444.4(SLX4):c.3368C>A (p.Ser1123Tyr) rs144647122 0.00031
NM_207122.2(EXT2):c.260T>G (p.Met87Arg) rs140075817 0.00031
NM_021930.6(RINT1):c.766C>G (p.Arg256Gly) rs144994876 0.00030
NM_178857.6(RP1L1):c.609+2T>C rs199958805 0.00030
NM_000051.4(ATM):c.4324T>C (p.Tyr1442His) rs201666889 0.00029
NM_000075.4(CDK4):c.625C>T (p.Arg209Cys) rs140644696 0.00029
NM_000268.4(NF2):c.1340+8G>T rs370604189 0.00029
NM_000277.3(PAH):c.688G>A (p.Val230Ile) rs62516152 0.00029
NM_000368.5(TSC1):c.346T>G (p.Leu116Val) rs199620268 0.00029
NM_000400.4(ERCC2):c.545C>T (p.Ala182Val) rs142936491 0.00029
NM_000548.5(TSC2):c.5116C>T (p.Arg1706Cys) rs45517391 0.00029
NM_001164508.2(NEB):c.20098C>A (p.Leu6700Ile) rs202139330 0.00029
NM_002354.3(EPCAM):c.577A>G (p.Ile193Val) rs200676965 0.00029
NM_004448.4(ERBB2):c.1738-5C>G rs749633839 0.00029
NM_080916.3(DGUOK):c.199G>A (p.Val67Ile) rs62641679 0.00029
NM_144997.7(FLCN):c.268G>T (p.Ala90Ser) rs141140415 0.00029
NM_000038.6(APC):c.2593C>T (p.Pro865Ser) rs192620988 0.00028
NM_000179.3(MSH6):c.3217C>T (p.Pro1073Ser) rs142254875 0.00028
NM_001365951.3(KIF1B):c.2115+6313G>A rs374263753 0.00028
NM_022455.5(NSD1):c.2696T>C (p.Ile899Thr) rs142703625 0.00028
NM_000123.4(ERCC5):c.2800G>A (p.Glu934Lys) rs201274165 0.00027
NM_000179.3(MSH6):c.-18G>T rs199913053 0.00027
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser) rs104895032 0.00027
NM_020937.4(FANCM):c.4366C>T (p.Arg1456Cys) rs200360968 0.00027
NM_000051.4(ATM):c.4362A>C (p.Lys1454Asn) rs148993589 0.00026
NM_000057.4(BLM):c.191A>T (p.Asp64Val) rs140382474 0.00026
NM_000553.6(WRN):c.1530A>T (p.Glu510Asp) rs149565907 0.00026
NM_001048174.2(MUTYH):c.-6-14T>A rs587781284 0.00026
NM_001365951.3(KIF1B):c.2115+6835C>T rs140733878 0.00026
NM_005228.5(EGFR):c.2543C>T (p.Pro848Leu) rs148934350 0.00026
NM_005732.4(RAD50):c.1094G>A (p.Arg365Gln) rs146370443 0.00026
NM_005732.4(RAD50):c.2288G>A (p.Arg763His) rs141989813 0.00026
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011 0.00026
NM_021930.6(RINT1):c.782C>T (p.Pro261Leu) rs199535472 0.00026
NM_030662.4(MAP2K2):c.678C>T (p.Ser226=) rs200874968 0.00026
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp) rs150624408 0.00026
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr) rs150757822 0.00025
NM_000546.6(TP53):c.704A>G (p.Asn235Ser) rs144340710 0.00025
NM_177438.3(DICER1):c.1124C>G (p.Pro375Arg) rs148758903 0.00025
NM_000245.4(MET):c.967A>G (p.Ser323Gly) rs201467281 0.00024
NM_000376.3(VDR):c.146+9dup rs748166237 0.00024
NM_001042681.2(RERE):c.1964C>T (p.Ala655Val) rs149900041 0.00024
NM_006231.4(POLE):c.2683G>A (p.Ala895Thr) rs201115064 0.00024
NM_007327.4(GRIN1):c.2444-14G>A rs191352124 0.00024
NM_022725.4(FANCF):c.573C>G (p.Ser191Arg) rs146219377 0.00024
NM_032043.3(BRIP1):c.139C>G (p.Pro47Ala) rs28903098 0.00024
NM_144997.7(FLCN):c.715C>T (p.Arg239Cys) rs78683075 0.00024
NM_000455.5(STK11):c.1194G>A (p.Ala398=) rs184271025 0.00023
NM_001001548.3(CD36):c.649G>A (p.Gly217Arg) rs200067322 0.00023
NM_006231.4(POLE):c.5379-19C>T rs376722984 0.00023
NM_020975.6(RET):c.874G>A (p.Val292Met) rs34682185 0.00023
NM_000038.6(APC):c.7036C>T (p.Pro2346Ser) rs200756935 0.00022
NM_000135.4(FANCA):c.3801C>T (p.Gly1267=) rs143772894 0.00022
NM_000548.5(TSC2):c.1973A>C (p.Lys658Thr) rs397515223 0.00022
NM_001365951.3(KIF1B):c.4211T>C (p.Val1404Ala) rs200561798 0.00022
NM_002439.5(MSH3):c.2438A>G (p.Lys813Arg) rs150446804 0.00022
NM_015570.4(AUTS2):c.3776G>A (p.Arg1259Gln) rs148604002 0.00022
NM_000264.5(PTCH1):c.3919C>T (p.Pro1307Ser) rs574880967 0.00021
NM_020822.3(KCNT1):c.1928G>A (p.Arg643Gln) rs141281093 0.00021
NM_022124.6(CDH23):c.2711C>T (p.Pro904Leu) rs199894395 0.00021
NM_000038.6(APC):c.3006C>T (p.Ala1002=) rs72541810 0.00020
NM_003072.5(SMARCA4):c.2275-10G>A rs375787249 0.00020
NM_000059.4(BRCA2):c.8905G>A (p.Val2969Met) rs59004709 0.00019
NM_000136.3(FANCC):c.29G>A (p.Cys10Tyr) rs143152201 0.00019
NM_000179.3(MSH6):c.3961A>G (p.Arg1321Gly) rs41295278 0.00019
NM_001018113.3(FANCB):c.507T>C (p.Ser169=) rs149609970 0.00019
NM_001220.5(CAMK2B):c.1466C>T (p.Pro489Leu) rs555460132 0.00019
NM_003072.5(SMARCA4):c.1076G>A (p.Arg359Gln) rs148530368 0.00019
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His) rs139366548 0.00019
NM_024426.6(WT1):c.193G>A (p.Gly65Arg) rs374404615 0.00019
NM_144997.7(FLCN):c.592G>A (p.Asp198Asn) rs200168437 0.00019
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_000545.8(HNF1A):c.1309+102A>T rs113111047 0.00018
NM_000546.6(TP53):c.935C>G (p.Thr312Ser) rs145151284 0.00018
NM_000051.4(ATM):c.1009C>T (p.Arg337Cys) rs138398778 0.00017
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met) rs587780046 0.00017
NM_007294.4(BRCA1):c.3748G>A (p.Glu1250Lys) rs28897686 0.00017
NM_000337.6(SGCD):c.92G>A (p.Arg31Gln) rs200476861 0.00016
NM_000400.4(ERCC2):c.601C>T (p.His201Tyr) rs1799792 0.00016
NM_000548.5(TSC2):c.1244C>T (p.Ala415Val) rs374936223 0.00016
NM_004168.4(SDHA):c.955A>C (p.Ile319Leu) rs377509915 0.00016
NM_006015.6(ARID1A):c.2718C>G (p.Asn906Lys) rs201864573 0.00016
NM_021930.6(RINT1):c.41C>T (p.Pro14Leu) rs201898612 0.00016
NM_000548.5(TSC2):c.1939G>A (p.Asp647Asn) rs45509392 0.00015
NM_005591.4(MRE11):c.1504C>T (p.Arg502Cys) rs186333183 0.00015
NM_005732.4(RAD50):c.1277A>G (p.Gln426Arg) rs145428112 0.00015
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342 0.00015
NM_000053.4(ATP7B):c.3886G>A (p.Asp1296Asn) rs199821556 0.00014
NM_000179.3(MSH6):c.2398G>C (p.Val800Leu) rs61748083 0.00014
NM_000368.5(TSC1):c.532G>A (p.Val178Ile) rs118203395 0.00014
NM_000548.5(TSC2):c.5185C>T (p.Arg1729Cys) rs45517409 0.00014
NM_001330360.2(POLA1):c.3090+6A>G rs370956790 0.00014
NM_001370259.2(MEN1):c.1351-4C>T rs764408631 0.00014
NM_003978.5(PSTPIP1):c.1115C>T (p.Ala372Val) rs200188483 0.00014
NM_004484.4(GPC3):c.172C>T (p.Pro58Ser) rs147231796 0.00014
NM_006206.6(PDGFRA):c.1135T>G (p.Leu379Val) rs199827643 0.00014
NM_016169.4(SUFU):c.1058C>T (p.Thr353Met) rs137880855 0.00014
NM_016169.4(SUFU):c.839G>A (p.Arg280Gln) rs145704867 0.00014
NM_019066.5(MAGEL2):c.539T>C (p.Val180Ala) rs58729661 0.00014
NM_032444.4(SLX4):c.832C>T (p.Arg278Trp) rs141597706 0.00014
NM_032977.4(CASP10):c.1297G>A (p.Glu433Lys) rs200540853 0.00014
NM_000075.4(CDK4):c.122A>G (p.Asn41Ser) rs144890720 0.00013
NM_000135.4(FANCA):c.3637C>G (p.Pro1213Ala) rs200713354 0.00013
NM_000535.7(PMS2):c.1556A>G (p.Tyr519Cys) rs63750649 0.00013
NM_000548.5(TSC2):c.3140T>C (p.Val1047Ala) rs45517284 0.00013
NM_001369369.1(FOXN1):c.1618G>A (p.Asp540Asn) rs181483148 0.00013
NM_002439.5(MSH3):c.562C>T (p.Arg188Cys) rs147289289 0.00013
NM_004168.4(SDHA):c.1A>G (p.Met1Val) rs1061517 0.00013
NM_005236.3(ERCC4):c.2395C>T (p.Arg799Trp) rs121913049 0.00013
NM_005236.3(ERCC4):c.973+11A>T rs185779788 0.00013
NM_005431.2(XRCC2):c.620A>G (p.Glu207Gly) rs61762969 0.00013
NM_021930.6(RINT1):c.767G>A (p.Arg256Gln) rs199512216 0.00013
NM_024675.4(PALB2):c.232G>A (p.Val78Ile) rs515726085 0.00013
NM_030665.4(RAI1):c.5254G>A (p.Gly1752Arg) rs755572135 0.00013
NM_177438.3(DICER1):c.4616C>T (p.Thr1539Met) rs747901058 0.00013
NM_000245.4(MET):c.3798+5T>C rs368150874 0.00012
NM_000264.5(PTCH1):c.3376G>A (p.Val1126Ile) rs147025073 0.00012
NM_000388.4(CASR):c.2777A>G (p.Gln926Arg) rs200263975 0.00012
NM_000548.5(TSC2):c.4094C>T (p.Ser1365Leu) rs377123510 0.00012
NM_006231.4(POLE):c.5812-11_5812-10del rs745976640 0.00012
NM_174936.4(PCSK9):c.1069C>T (p.Arg357Cys) rs148562777 0.00012
NM_000038.6(APC):c.3875C>T (p.Thr1292Met) rs371113837 0.00011
NM_000249.4(MLH1):c.884+16A>G rs377598055 0.00011
NM_000314.8(PTEN):c.235G>A (p.Ala79Thr) rs202004587 0.00011
NM_000400.4(ERCC2):c.2195A>G (p.Asp732Gly) rs201828535 0.00011
NM_000535.7(PMS2):c.1559C>T (p.Ala520Val) rs63751300 0.00011
NM_001005498.4(RHBDF2):c.361C>T (p.Arg121Cys) rs187556554 0.00011
NM_001211.6(BUB1B):c.1261C>T (p.Arg421Trp) rs201251790 0.00011
NM_004360.5(CDH1):c.2512A>G (p.Ser838Gly) rs121964872 0.00011
NM_004562.3(PRKN):c.1372A>C (p.Met458Leu) rs182893847 0.00011
NM_017866.6(TMEM70):c.317-2A>G rs183973249 0.00011
NM_024675.4(PALB2):c.1250C>A (p.Ser417Tyr) rs45510998 0.00011
NM_025137.4(SPG11):c.5381T>C (p.Leu1794Pro) rs201689565 0.00011
NM_032043.3(BRIP1):c.3444C>A (p.Asp1148Glu) rs28997573 0.00011
NM_000038.6(APC):c.388A>G (p.Ser130Gly) rs150973053 0.00010
NM_000179.3(MSH6):c.3245C>T (p.Pro1082Leu) rs191109849 0.00010
NM_000243.3(MEFV):c.2282G>A (p.Arg761His) rs104895097 0.00010
NM_000249.4(MLH1):c.1964T>C (p.Ile655Thr) rs63751225 0.00010
NM_000388.4(CASR):c.740C>T (p.Ser247Phe) rs200382161 0.00010
NM_002016.2(FLG):c.3059C>G (p.Ser1020Ter) rs200360684 0.00010
NM_006231.4(POLE):c.6531+6G>T rs774747998 0.00010
NM_021930.6(RINT1):c.1317G>C (p.Leu439Phe) rs150180546 0.00010
NM_000038.6(APC):c.95A>G (p.Asn32Ser) rs539108537 0.00009
NM_000051.4(ATM):c.670A>G (p.Lys224Glu) rs145053092 0.00009
NM_000179.3(MSH6):c.1063G>A (p.Gly355Ser) rs587778531 0.00009
NM_000179.3(MSH6):c.1730G>A (p.Arg577His) rs376220212 0.00009
NM_000179.3(MSH6):c.660A>C (p.Glu220Asp) rs1800938 0.00009
NM_000264.5(PTCH1):c.3816C>T (p.Pro1272=) rs369295226 0.00009
NM_000465.4(BARD1):c.1694G>A (p.Arg565His) rs146946984 0.00009
NM_000545.8(HNF1A):c.142G>A (p.Glu48Lys) rs772222326 0.00009
NM_000548.5(TSC2):c.5142G>A (p.Gln1714=) rs147147042 0.00009
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) rs140342925 0.00009
NM_001365951.3(KIF1B):c.899A>G (p.Lys300Arg) rs373698346 0.00009
NM_001754.5(RUNX1):c.668A>G (p.Glu223Gly) rs780999703 0.00009
NM_004064.5(CDKN1B):c.54C>T (p.Ala18=) rs151027466 0.00009
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982 0.00009
NM_007194.4(CHEK2):c.444+1G>A rs121908698 0.00009
NM_007194.4(CHEK2):c.556A>C (p.Asn186His) rs146198085 0.00009
NM_014714.4(IFT140):c.1565G>A (p.Gly522Glu) rs199826737 0.00009
NM_020937.4(FANCM):c.1972C>T (p.Arg658Ter) rs368728266 0.00009
NM_024675.4(PALB2):c.1544A>G (p.Lys515Arg) rs515726072 0.00009
NM_024675.4(PALB2):c.3251C>T (p.Ser1084Leu) rs62625271 0.00009
NM_024675.4(PALB2):c.3508C>T (p.His1170Tyr) rs200283306 0.00009
NM_177438.3(DICER1):c.5527+7T>A rs375239471 0.00009
NM_000059.4(BRCA2):c.5635G>A (p.Glu1879Lys) rs55996097 0.00008
NM_000179.3(MSH6):c.1474A>G (p.Met492Val) rs61754783 0.00008
NM_000222.3(KIT):c.2867G>A (p.Arg956Gln) rs139694927 0.00008
NM_000251.3(MSH2):c.4G>A (p.Ala2Thr) rs63750466 0.00008
NM_000264.5(PTCH1):c.4302C>T (p.Asp1434=) rs201357130 0.00008
NM_000380.4(XPA):c.731A>G (p.His244Arg) rs144725456 0.00008
NM_000400.4(ERCC2):c.428G>A (p.Arg143Gln) rs150000483 0.00008
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp) rs199739859 0.00008
NM_001001548.3(CD36):c.1202_1205del (p.Val401fs) rs769354931 0.00008
NM_001018113.3(FANCB):c.127T>A (p.Leu43Ile) rs771007866 0.00008
NM_001370259.2(MEN1):c.1185+12G>A rs373609932 0.00008
NM_000051.4(ATM):c.2021A>G (p.His674Arg) rs201762714 0.00007
NM_000179.3(MSH6):c.1054G>A (p.Val352Ile) rs730881787 0.00007
NM_000222.3(KIT):c.297C>T (p.Asn99=) rs768599276 0.00007
NM_000400.4(ERCC2):c.5+6A>G rs751637822 0.00007
NM_024642.5(GALNT12):c.608A>G (p.Asn203Ser) rs375844934 0.00007
NM_000038.6(APC):c.5140G>A (p.Asp1714Asn) rs148275069 0.00006
NM_000051.4(ATM):c.1010G>A (p.Arg337His) rs202160435 0.00006
NM_000059.4(BRCA2):c.831T>G (p.Asn277Lys) rs28897705 0.00006
NM_000142.5(FGFR3):c.272C>T (p.Pro91Leu) rs144995231 0.00006
NM_000179.3(MSH6):c.3986C>T (p.Ser1329Leu) rs199594809 0.00006
NM_000249.4(MLH1):c.1013A>G (p.Asn338Ser) rs63751467 0.00006
NM_000249.4(MLH1):c.1360G>C (p.Gly454Arg) rs63750527 0.00006
NM_000264.5(PTCH1):c.2437C>G (p.Pro813Ala) rs45579032 0.00006
NM_000548.5(TSC2):c.3100G>A (p.Val1034Ile) rs146745242 0.00006
NM_001291303.3(FAT4):c.12499G>A (p.Ala4167Thr) rs369432764 0.00006
NM_001365951.3(KIF1B):c.1769G>A (p.Ser590Asn) rs768672234 0.00006
NM_001365951.3(KIF1B):c.2675+3A>G rs200684032 0.00006
NM_001374828.1(ARID1B):c.5672C>T (p.Pro1891Leu) rs142466273 0.00006
NM_001382430.1(AKT1):c.1394G>A (p.Arg465His) rs113547523 0.00006
NM_001614.5(ACTG1):c.124-9C>T rs376850595 0.00006
NM_001849.4(COL6A2):c.2707G>A (p.Glu903Lys) rs373611722 0.00006
NM_002485.5(NBN):c.127C>T (p.Arg43Ter) rs200287925 0.00006
NM_004628.5(XPC):c.572G>A (p.Arg191Gln) rs575874780 0.00006
NM_006231.4(POLE):c.2468+12C>T rs776938447 0.00006
NM_006261.5(PROP1):c.150del (p.Arg53fs) rs587776683 0.00006
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu) rs587780180 0.00006
NM_020117.11(LARS1):c.3313C>T (p.Arg1105Ter) rs369437593 0.00006
NM_032043.3(BRIP1):c.2233G>A (p.Ala745Thr) rs587780235 0.00006
NM_032043.3(BRIP1):c.918+1G>A rs587781655 0.00006
NM_033409.4(SLC52A3):c.62A>G (p.Asn21Ser) rs199588390 0.00006
NM_152564.5(VPS13B):c.10959G>A (p.Pro3653=) rs771022240 0.00006
NM_177417.3(KLC3):c.1486G>A (p.Ala496Thr) rs368153383 0.00006
NM_000059.4(BRCA2):c.8090G>A (p.Ser2697Asn) rs80359051 0.00005
NM_000138.5(FBN1):c.7051G>A (p.Gly2351Ser) rs746127796 0.00005
NM_000143.4(FH):c.1127A>C (p.Gln376Pro) rs200796606 0.00005
NM_000400.4(ERCC2):c.1237+20T>A rs758988777 0.00005
NM_000719.7(CACNA1C):c.1673C>T (p.Thr558Met) rs572234918 0.00005
NM_002474.3(MYH11):c.5869G>C (p.Glu1957Gln) rs768140376 0.00005
NM_002485.5(NBN):c.1454C>T (p.Thr485Met) rs200891292 0.00005
NM_005629.4(SLC6A8):c.1646A>C (p.Asn549Thr) rs782790088 0.00005
NM_007294.4(BRCA1):c.5176A>G (p.Arg1726Gly) rs80357501 0.00005
NM_032444.4(SLX4):c.3019C>A (p.Gln1007Lys) rs138798067 0.00005
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00004
NM_000059.4(BRCA2):c.4570T>G (p.Phe1524Val) rs56386506 0.00004
NM_000059.4(BRCA2):c.7505G>A (p.Arg2502His) rs56070345 0.00004
NM_000059.4(BRCA2):c.887A>G (p.Tyr296Cys) rs45457795 0.00004
NM_000071.3(CBS):c.341C>T (p.Ala114Val) rs121964964 0.00004
NM_000094.4(COL7A1):c.4445G>A (p.Arg1482Gln) rs570707807 0.00004
NM_000204.5(CFI):c.1015C>T (p.Arg339Ter) rs762761680 0.00004
NM_000264.5(PTCH1):c.1067+5G>C rs372657547 0.00004
NM_000548.5(TSC2):c.2049C>T (p.Ser683=) rs569518378 0.00004
NM_000548.5(TSC2):c.3365G>A (p.Arg1122His) rs369536711 0.00004
NM_001018115.3(FANCD2):c.4052C>T (p.Thr1351Met) rs775898191 0.00004
NM_001048174.2(MUTYH):c.241C>T (p.Arg81Trp) rs765123255 0.00004
NM_001048174.2(MUTYH):c.305-6C>T rs376600220 0.00004
NM_001134407.3(GRIN2A):c.547T>A (p.Phe183Ile) rs587780353 0.00004
NM_002878.4(RAD51D):c.694C>T (p.Arg232Ter) rs587780104 0.00004
NM_002878.4(RAD51D):c.796C>T (p.Arg266Cys) rs587781813 0.00004
NM_004304.5(ALK):c.1787T>C (p.Met596Thr) rs754810505 0.00004
NM_004360.5(CDH1):c.2387G>A (p.Arg796Gln) rs587782549 0.00004
NM_004984.4(KIF5A):c.2803C>T (p.Pro935Ser) rs764612223 0.00004
NM_005228.5(EGFR):c.1998C>G (p.Leu666=) rs779909747 0.00004
NM_006206.6(PDGFRA):c.2897A>G (p.His966Arg) rs200042995 0.00004
NM_006231.4(POLE):c.4952+17C>T rs750268044 0.00004
NM_007194.4(CHEK2):c.1336A>G (p.Asn446Asp) rs121908705 0.00004
NM_007294.4(BRCA1):c.4669G>C (p.Asp1557His) rs80356906 0.00004
NM_007327.4(GRIN1):c.1076G>A (p.Arg359His) rs141704101 0.00004
NM_172362.3(KCNH1):c.544T>A (p.Ser182Thr) rs749800577 0.00004
NM_000038.6(APC):c.5635G>T (p.Ala1879Ser) rs587779799 0.00003
NM_000038.6(APC):c.8383G>A (p.Ala2795Thr) rs369264968 0.00003
NM_000051.4(ATM):c.2250G>A (p.Lys750=) rs1137887 0.00003
NM_000053.4(ATP7B):c.3121C>T (p.Arg1041Trp) rs746485916 0.00003
NM_000059.4(BRCA2):c.4301A>T (p.Lys1434Ile) rs397507714 0.00003
NM_000094.4(COL7A1):c.2045G>A (p.Arg682Gln) rs772900092 0.00003
NM_000122.2(ERCC3):c.658-7C>G rs200361738 0.00003
NM_000249.4(MLH1):c.191A>G (p.Asn64Ser) rs63750952 0.00003
NM_000368.5(TSC1):c.568C>T (p.Arg190Cys) rs118203400 0.00003
NM_000535.7(PMS2):c.2113G>A (p.Glu705Lys) rs267608161 0.00003
NM_000535.7(PMS2):c.2288A>G (p.Glu763Gly) rs587780052 0.00003
NM_000540.3(RYR1):c.1589G>A (p.Arg530His) rs111888148 0.00003
NM_000548.5(TSC2):c.336+14C>T rs570065416 0.00003
NM_000548.5(TSC2):c.538C>G (p.Leu180Val) rs45485591 0.00003
NM_001069.3(TUBB2A):c.743C>T (p.Ala248Val) rs2808001 0.00003
NM_004360.5(CDH1):c.1417G>A (p.Val473Ile) rs36087757 0.00003
NM_004360.5(CDH1):c.304G>A (p.Ala102Thr) rs368492235 0.00003
NM_006231.4(POLE):c.2027-12C>G rs767811987 0.00003
NM_022168.4(IFIH1):c.2465G>A (p.Arg822Gln) rs376048533 0.00003
NM_022455.5(NSD1):c.682C>G (p.Pro228Ala) rs770522999 0.00003
NM_198253.3(TERT):c.2971-10G>T rs878855303 0.00003
NM_000051.4(ATM):c.9022C>T (p.Arg3008Cys) rs587782292 0.00002
NM_000057.4(BLM):c.3028del (p.Asp1010fs) rs780379121 0.00002
NM_000059.4(BRCA2):c.5645C>A (p.Ser1882Ter) rs80358785 0.00002
NM_000059.4(BRCA2):c.7534C>T (p.Leu2512Phe) rs80358980 0.00002
NM_000245.4(MET):c.1640G>A (p.Arg547Gln) rs761951444 0.00002
NM_000251.3(MSH2):c.1510+11G>C rs370675562 0.00002
NM_000268.4(NF2):c.599+3G>A rs768301915 0.00002
NM_000368.5(TSC1):c.947G>A (p.Arg316Gln) rs375956049 0.00002
NM_000400.4(ERCC2):c.1665+17C>A rs774329591 0.00002
NM_000400.4(ERCC2):c.2080C>T (p.Pro694Ser) rs764868582 0.00002
NM_000535.7(PMS2):c.2264T>C (p.Ile755Thr) rs386833410 0.00002
NM_000546.6(TP53):c.665C>T (p.Pro222Leu) rs146340390 0.00002
NM_000548.5(TSC2):c.5014A>G (p.Ile1672Val) rs374066182 0.00002
NM_000548.5(TSC2):c.5251C>T (p.Arg1751Cys) rs781630603 0.00002
NM_001127511.3(APC):c.166-28443T>A rs751998391 0.00002
NM_001289808.2(CRYAB):c.34C>T (p.Arg12Cys) rs375933774 0.00002
NM_002439.5(MSH3):c.359-17C>G rs761027175 0.00002
NM_002667.5(PLN):c.116T>G (p.Leu39Ter) rs111033560 0.00002
NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu) rs370228071 0.00002
NM_003977.4(AIP):c.822C>A (p.Ala274=) rs145142121 0.00002
NM_004006.3(DMD):c.7892G>A (p.Arg2631His) rs748007790 0.00002
NM_004360.5(CDH1):c.1273G>A (p.Val425Ile) rs570930882 0.00002
NM_004360.5(CDH1):c.188G>A (p.Arg63Gln) rs587780117 0.00002
NM_004629.2(FANCG):c.176-10G>A rs376273679 0.00002
NM_005591.4(MRE11):c.77T>C (p.Met26Thr) rs372068015 0.00002
NM_006767.4(LZTR1):c.264-9G>T rs377233316 0.00002
NM_015937.6(PIGT):c.188-2A>G rs771691280 0.00002
NM_017841.4(SDHAF2):c.98G>A (p.Arg33His) rs777442412 0.00002
NM_033360.4(KRAS):c.249C>T (p.Ala83=) rs751117590 0.00002
NM_000038.6(APC):c.3323A>G (p.Asn1108Ser) rs151286353 0.00001
NM_000038.6(APC):c.7766A>G (p.Glu2589Gly) rs200406572 0.00001
NM_000038.6(APC):c.8057T>C (p.Val2686Ala) rs757901425 0.00001
NM_000051.4(ATM):c.5488A>G (p.Met1830Val) rs587781622 0.00001
NM_000051.4(ATM):c.7630-2A>C rs587779866 0.00001
NM_000059.4(BRCA2):c.5882G>A (p.Ser1961Asn) rs80358820 0.00001
NM_000059.4(BRCA2):c.599C>T (p.Thr200Ile) rs587781402 0.00001
NM_000059.4(BRCA2):c.7928C>G (p.Ala2643Gly) rs80359018 0.00001
NM_000059.4(BRCA2):c.8009C>T (p.Ser2670Leu) rs80359035 0.00001
NM_000059.4(BRCA2):c.8350C>T (p.Arg2784Trp) rs80359075 0.00001
NM_000059.4(BRCA2):c.9242T>C (p.Val3081Ala) rs80359189 0.00001
NM_000059.4(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759 0.00001
NM_000083.3(CLCN1):c.1471+1G>A rs375596425 0.00001
NM_000093.5(COL5A1):c.2593-3C>T rs199895142 0.00001
NM_000143.4(FH):c.1048C>T (p.Arg350Trp) rs755436052 0.00001
NM_000153.4(GALC):c.1949T>C (p.Leu650Pro) rs1249991480 0.00001
NM_000157.4(GBA1):c.703T>C (p.Ser235Pro) rs1064644 0.00001
NM_000199.5(SGSH):c.1A>G (p.Met1Val) rs1250300189 0.00001
NM_000249.4(MLH1):c.1103C>T (p.Ser368Leu) rs201673334 0.00001
NM_000251.3(MSH2):c.2459-12A>C rs267608012 0.00001
NM_000334.4(SCN4A):c.3917G>C (p.Gly1306Ala) rs80338792 0.00001
NM_000400.4(ERCC2):c.1759-2A>G rs774936846 0.00001
NM_000535.7(PMS2):c.1753C>A (p.Leu585Ile) rs63750947 0.00001
NM_000546.6(TP53):c.473G>A (p.Arg158His) rs587782144 0.00001
NM_000546.6(TP53):c.853G>A (p.Glu285Lys) rs112431538 0.00001
NM_000548.5(TSC2):c.213G>T (p.Lys71Asn) rs766200310 0.00001
NM_001009944.3(PKD1):c.8311G>A (p.Glu2771Lys) rs1057518897 0.00001
NM_001048174.2(MUTYH):c.264+10C>T rs369242529 0.00001
NM_001111125.3(IQSEC2):c.419C>T (p.Pro140Leu) rs1372592100 0.00001
NM_001113378.2(FANCI):c.3949C>T (p.Gln1317Ter) rs758856471 0.00001
NM_001190274.2(FBXO11):c.146C>A (p.Pro49Gln) rs1257345739 0.00001
NM_001253852.3(AP4B1):c.1115-2A>G rs1210851910 0.00001
NM_003000.3(SDHB):c.649C>T (p.Arg217Cys) rs200245469 0.00001
NM_003000.3(SDHB):c.725G>A (p.Arg242His) rs74315368 0.00001
NM_003001.5(SDHC):c.214C>T (p.Arg72Cys) rs756676111 0.00001
NM_004168.4(SDHA):c.923C>T (p.Thr308Met) rs1457666982 0.00001
NM_004628.5(XPC):c.900T>C (p.His300=) rs929649978 0.00001
NM_005591.4(MRE11):c.1074A>G (p.Pro358=) rs876659934 0.00001
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter) rs371418985 0.00001
NM_007194.4(CHEK2):c.528G>C (p.Gly176=) rs587780889 0.00001
NM_007294.4(BRCA1):c.4689C>G (p.Tyr1563Ter) rs80357433 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_014239.4(EIF2B2):c.165G>A (p.Gly55=) rs1365390122 0.00001
NM_014727.3(KMT2B):c.5908C>A (p.Pro1970Thr) rs991657581 0.00001
NM_020975.6(RET):c.322A>C (p.Lys108Gln) rs567877611 0.00001
NM_022455.5(NSD1):c.3056G>A (p.Arg1019His) rs750354456 0.00001
NM_022455.5(NSD1):c.34T>C (p.Cys12Arg) rs143406017 0.00001
NM_024675.4(PALB2):c.1610C>T (p.Ser537Leu) rs142103232 0.00001
NM_024675.4(PALB2):c.2922G>T (p.Lys974Asn) rs730881892 0.00001
NM_024675.4(PALB2):c.315G>C (p.Glu105Asp) rs515726108 0.00001
NM_057175.5(NAA15):c.239_240del (p.His80fs) rs779009256 0.00001
NM_130839.5(UBE3A):c.176G>A (p.Arg59His) rs587784511 0.00001
NM_144672.4(OTOA):c.1249C>T (p.Leu417Phe) rs764182550 0.00001
NM_144672.4(OTOA):c.399+2T>C rs760573914 0.00001
NM_000038.6(APC):c.423-1G>A rs397514031
NM_000038.6(APC):c.423-4del rs730881230
NM_000038.6(APC):c.6354TGC[5] (p.Ala2122dup) rs587780602
NM_000038.6(APC):c.6907G>A (p.Gly2303Arg) rs544549596
NM_000051.4(ATM):c.3154-4G>A rs199543313
NM_000051.4(ATM):c.3285-9del rs1799757
NM_000051.4(ATM):c.3403-13dup rs3218681
NM_000051.4(ATM):c.381del (p.Thr127_Val128insTer) rs587781831
NM_000051.4(ATM):c.497-4del rs768748099
NM_000051.4(ATM):c.6200C>A (p.Ala2067Asp) rs397514577
NM_000051.4(ATM):c.8763G>A (p.Thr2921=) rs781528244
NM_000059.4(BRCA2):c.1909+22del rs276174816
NM_000059.4(BRCA2):c.2803G>C (p.Asp935His) rs28897716
NM_000059.4(BRCA2):c.4588A>T (p.Lys1530Ter) rs80358692
NM_000059.4(BRCA2):c.4928T>C (p.Val1643Ala) rs28897731
NM_000059.4(BRCA2):c.7879A>T (p.Ile2627Phe) rs80359014
NM_000059.4(BRCA2):c.7976G>A (p.Arg2659Lys) rs80359027
NM_000059.4(BRCA2):c.8486A>G (p.Gln2829Arg) rs80359100
NM_000059.4(BRCA2):c.8633-4T>A rs397507407
NM_000059.4(BRCA2):c.865A>G (p.Asn289Asp) rs766173
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_000059.4(BRCA2):c.8941G>A (p.Glu2981Lys) rs139052578
NM_000059.4(BRCA2):c.9649-6dup rs276174929
NM_000063.6(C2):c.841_849+19del rs9332736
NM_000070.3(CAPN3):c.701G>A (p.Gly234Glu) rs1555420634
NM_000135.4(FANCA):c.4010+1_4010+18del rs752457319
NM_000138.5(FBN1):c.3656A>G (p.Tyr1219Cys) rs1555398394
NM_000141.5(FGFR2):c.826T>G (p.Phe276Val) rs1057519036
NM_000143.4(FH):c.1431_1433dup (p.Lys477dup) rs367543046
NM_000179.3(MSH6):c.2677_2678del (p.Leu893fs) rs1572728112
NM_000179.3(MSH6):c.3260C>A (p.Pro1087His) rs63750753
NM_000179.3(MSH6):c.3758T>A (p.Val1253Glu) rs202066386
NM_000179.3(MSH6):c.3991C>T (p.Arg1331Ter) rs267608094
NM_000179.3(MSH6):c.4001+2TAAC[2] rs267608132
NM_000186.4(CFH):c.2783-3del rs748791414
NM_000188.3(HK1):c.1334C>T (p.Ser445Leu) rs1064794848
NM_000218.3(KCNQ1):c.569G>T (p.Arg190Leu) rs120074178
NM_000249.4(MLH1):c.1268G>A (p.Arg423Lys) rs370687064
NM_000249.4(MLH1):c.2235C>T (p.Asn745=) rs864622677
NM_000249.4(MLH1):c.790+1G>A rs267607789
NM_000249.4(MLH1):c.793C>T (p.Arg265Cys) rs63751194
NM_000251.3(MSH2):c.1276+23del rs587779081
NM_000251.3(MSH2):c.212-4del rs746333570
NM_000251.3(MSH2):c.212-4dup rs746333570
NM_000264.5(PTCH1):c.-24GGC[5] rs71366293
NM_000286.3(PEX12):c.362TTC[2] (p.Leu123del) rs751058068
NM_000314.8(PTEN):c.389G>A (p.Arg130Gln) rs121909229
NM_000321.3(RB1):c.1499-10del rs148580581
NM_000322.5(PRPH2):c.499G>A (p.Gly167Ser) rs527236098
NM_000368.5(TSC1):c.3107G>A (p.Gly1036Glu) rs774196458
NM_000372.5(TYR):c.996G>A (p.Met332Ile) rs2135253415
NM_000400.4(ERCC2):c.1703_1704del (p.Phe568fs) rs587778271
NM_000400.4(ERCC2):c.2191-11G>A rs1568530396
NM_000432.4(MYL2):c.64G>A (p.Glu22Lys) rs104894368
NM_000435.3(NOTCH3):c.1363T>C (p.Cys455Arg) rs28933698
NM_000463.3(UGT1A1):c.1060T>A (p.Trp354Arg) rs1559414817
NM_000465.4(BARD1):c.1075_1095del (p.Leu359_Pro365del) rs28997575
NM_000465.4(BARD1):c.159-1G>T rs879254139
NM_000465.4(BARD1):c.1935_1954dup (p.Glu652fs) rs587780024
NM_000486.6(AQP2):c.298G>A (p.Gly100Arg) rs1303076207
NM_000492.3(CFTR):c.1521_1523del (p.Phe508del) rs113993960
NM_000492.4(CFTR):c.1251C>A (p.Asn417Lys) rs4727853
NM_000492.4(CFTR):c.3485G>T (p.Arg1162Leu) rs1800120
NM_000492.4(CFTR):c.350G>A (p.Arg117His) rs78655421
NM_000501.4(ELN):c.643+1G>A rs1131691482
NM_000527.5(LDLR):c.858C>A (p.Ser286Arg) rs140241383
NM_000531.6(OTC):c.119G>A (p.Arg40His) rs72554308
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.7(PMS2):c.706-5_706-4del rs60794673
NM_000546.6(TP53):c.731G>A (p.Gly244Asp) rs985033810
NM_000548.5(TSC2):c.1577G>A (p.Ser526Asn) rs376573446
NM_000548.5(TSC2):c.3358G>C (p.Val1120Leu) rs1053311636
NM_000551.4(VHL):c.257C>G (p.Pro86Arg) rs730882034
NM_000587.4(C7):c.1561C>A (p.Arg521Ser) rs121964920
NM_000702.4(ATP1A2):c.848C>T (p.Ala283Val) rs1553244740
NM_000791.4(DHFR):c.-437GGGGCGCTG[3] rs60484572
NM_000939.4(POMC):c.280AGCAGCGGC[3] (p.94SSG[3]) rs10654394
NM_001018115.3(FANCD2):c.2022-5C>T rs4019784
NM_001042492.3(NF1):c.3445A>G (p.Met1149Val) rs1187097568
NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=) rs121908380
NM_001083962.2(TCF4):c.990G>A (p.Ser330=) rs587784469
NM_001098175.2(ENTPD1):c.33G>A (p.Gln11=)
NM_001134831.2(AHI1):c.2173T>C (p.Trp725Arg) rs863225144
NM_001190274.2(FBXO11):c.149AGC[8] (p.Gln56dup) rs746953076
NM_001190274.2(FBXO11):c.2518T>C (p.Ser840Pro) rs1553335247
NM_001195553.2(DCX):c.667G>A (p.Gly223Arg) rs587783577
NM_001244008.2(KIF1A):c.2721GGA[12] (p.Glu917dup) rs10594016
NM_001257281.2(DIS3L2):c.1651_1652insGGG (p.Glu550_Ala551insGly) rs141560952
NM_001267550.2(TTN):c.75469C>T (p.Arg25157Ter) rs1553603394
NM_001312909.2(FAM111A):c.281_290del (p.Leu94fs) rs759624749
NM_001330260.2(SCN8A):c.2726A>G (p.Asn909Ser)
NM_001330260.2(SCN8A):c.4115A>G (p.Asn1372Ser) rs2138904379
NM_001348716.2(KDM6B):c.1085_1088del (p.Glu362fs) rs769566928
NM_001374828.1(ARID1B):c.1194AGG[3] (p.Gly402del) rs587779748
NM_001374828.1(ARID1B):c.6145C>T (p.Arg2049Ter) rs1554237658
NM_001429.4(EP300):c.6970dup (p.His2324fs)
NM_001844.5(COL2A1):c.2491G>A (p.Gly831Arg) rs1064796660
NM_001845.6(COL4A1):c.3574G>C (p.Gly1192Arg) rs2139156269
NM_001903.5(CTNNA1):c.2434-5C>G rs369052669
NM_001903.5(CTNNA1):c.361C>T (p.Arg121Ter) rs1043413100
NM_001933.5(DLST):c.147-17G>C rs201278080
NM_001940.4(ATN1):c.1464GCA[10] (p.Gln498_Gln502del) rs60216939
NM_002016.2(FLG):c.7339C>T (p.Arg2447Ter) rs138726443
NM_002354.3(EPCAM):c.267G>C (p.Gln89His) rs146480420
NM_002382.5(MAX):c.-126AGTG[4] rs556734672
NM_002439.5(MSH3):c.153TGCAGCGGC[3] (p.Ala60_Ala62dup) rs758595508
NM_002439.5(MSH3):c.2686G>T (p.Gly896Ter) rs777054839
NM_002485.5(NBN):c.657_661del (p.Lys219fs) rs587776650
NM_002971.6(SATB1):c.1588G>A (p.Glu530Lys) rs1694399198
NM_003924.4(PHOX2B):c.741_755del (p.Ala256_Ala260del) rs775006915
NM_004168.4(SDHA):c.1A>T (p.Met1Leu) rs1061517
NM_004260.4(RECQL4):c.3062G>A (p.Arg1021Gln) rs34666647
NM_004360.5(CDH1):c.531+17T>C rs1057520562
NM_004364.5(CEBPA):c.572ACCCGC[4] (p.191HP[4]) rs762459325
NM_004484.4(GPC3):c.1033-4250del rs372010975
NM_004655.4(AXIN2):c.1404CCA[7] (p.His474dup) rs570443161
NM_005359.6(SMAD4):c.479A>G (p.Asp160Gly) rs1555685629
NM_005633.4(SOS1):c.508A>G (p.Lys170Glu) rs397517172
NM_005732.4(RAD50):c.3877_3879dup (p.Ile1293dup) rs765370709
NM_005901.6(SMAD2):c.358C>T (p.Arg120Ter)
NM_006005.3(WFS1):c.2027G>A (p.Arg676His) rs143055296
NM_006087.4(TUBB4A):c.1163T>C (p.Met388Thr) rs886041020
NM_006218.4(PIK3CA):c.3140A>G (p.His1047Arg) rs121913279
NM_006231.4(POLE):c.1A>G (p.Met1Val) rs878854847
NM_006231.4(POLE):c.2026+3G>T rs749631362
NM_006231.4(POLE):c.2091dup (p.Phe699fs) rs752846614
NM_006231.4(POLE):c.3264_3275+13del rs761516512
NM_006296.7(VRK2):c.*102_*105dup rs759217526
NM_006516.4(SLC2A1):c.400G>A (p.Gly134Ser) rs1057518953
NM_006662.3(SRCAP):c.7303C>T (p.Arg2435Ter) rs199469465
NM_006767.4(LZTR1):c.1887_1888insAG (p.Arg630fs) rs1924776706
NM_007055.4(POLR3A):c.1771-6C>A rs115020338
NM_007294.4(BRCA1):c.140G>A (p.Cys47Tyr) rs80357150
NM_007294.4(BRCA1):c.4396dup (p.Ser1466fs) rs397509170
NM_007294.4(BRCA1):c.4675+1G>A rs80358044
NM_007294.4(BRCA1):c.5266dup (p.Gln1756fs) rs80357906
NM_007294.4(BRCA1):c.5306A>G (p.Tyr1769Cys) rs397509257
NM_012330.4(KAT6B):c.3004C>T (p.Arg1002Ter) rs2134159699
NM_014014.5(SNRNP200):c.2066A>G (p.Tyr689Cys) rs556400279
NM_014975.3(MAST1):c.278C>T (p.Ser93Leu) rs878853165
NM_015570.4(AUTS2):c.1999G>A (p.Val667Ile)
NM_016188.5(ACTL6B):c.1027G>A (p.Gly343Arg) rs1131692228
NM_017654.4(SAMD9):c.3728_3731del (p.Asn1243fs) rs778111446
NM_017763.6(RNF43):c.1976dup (p.Pro660fs) rs755128667
NM_017934.7(PHIP):c.5317C>T (p.Arg1773Ter) rs1554193405
NM_018026.4(PACS1):c.607C>T (p.Arg203Trp) rs398123009
NM_019842.4(KCNQ5):c.7C>A (p.Arg3Ser) rs549110435
NM_020937.4(FANCM):c.1397-15TA[6] rs112326758
NM_020988.3(GNAO1):c.709G>A (p.Glu237Lys) rs1064794533
NM_021098.3(CACNA1H):c.2051C>A (p.Pro684His) rs767983680
NM_021922.3(FANCE):c.929dup (p.Val311fs) rs587778337
NM_022455.5(NSD1):c.5781C>G (p.Ala1927=) rs61749654
NM_024529.5(CDC73):c.-4dup rs545666726
NM_024598.4(USB1):c.518T>G (p.Leu173Arg) rs1555498563
NM_024642.5(GALNT12):c.2T>C (p.Met1Thr) rs1005081558
NM_024675.4(PALB2):c.3362del (p.Gly1121fs) rs515726117
NM_025137.4(SPG11):c.6898_6899del (p.Leu2300fs) rs312262786
NM_032444.4(SLX4):c.421G>T (p.Gly141Trp) rs137976282
NM_032888.4(COL27A1):c.1727G>T (p.Ser576Ile) rs148019836
NM_033629.6(TREX1):c.868_885del (p.Pro290_Ala295del) rs79318303
NM_058216.3(RAD51C):c.502A>T (p.Arg168Ter) rs587781490
NM_058216.3(RAD51C):c.732del (p.Ile244fs) rs1060502601
NM_144773.4(PROKR2):c.254G>A (p.Arg85His) rs74315418
NM_152296.5(ATP1A3):c.2267G>A (p.Arg756His) rs606231435
NM_177438.3(DICER1):c.2651-14T>G rs753857234
NM_181783.4(TMTC3):c.747TGT[1] (p.Val251del) rs771461068
NM_198253.3(TERT):c.1317GGA[2] (p.Glu441del) rs377639087
NM_206965.2(FTCD):c.990dup (p.Pro331fs) rs398124234
NM_207122.2(EXT2):c.520A>C (p.Met174Leu) rs111589746

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