ClinVar Miner

Variants from KCCC/NGS Laboratory, Kuwait Cancer Control Center with conflicting interpretations

Location: Kuwait  Primary collection method: clinical testing
Minimum review status of the submission from KCCC/NGS Laboratory, Kuwait Cancer Control Center: Collection method of the submission from KCCC/NGS Laboratory, Kuwait Cancer Control Center:
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
1136 1068 0 545 179 5 22 662

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
KCCC/NGS Laboratory, Kuwait Cancer Control Center pathogenic likely pathogenic uncertain significance likely benign benign association established risk allele risk factor
pathogenic 0 28 4 1 0 0 0 0
likely pathogenic 8 0 5 0 0 0 0 0
uncertain significance 3 4 0 15 2 1 1 1
likely benign 2 1 59 0 142 0 0 1
benign 3 1 103 367 0 0 0 1
association 0 1 0 0 0 0 0 0
likely risk allele 1 1 1 0 0 1 1 1

Submitter to submitter summary #

Total submitters: 80
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
Illumina Laboratory Services, Illumina 0 464 0 196 57 1 0 254
Counsyl 0 227 0 84 4 0 1 89
Invitae 0 708 0 71 4 3 0 78
Mendelics 0 72 0 64 0 1 2 67
Genome-Nilou Lab 0 254 0 58 1 0 1 60
Ambry Genetics 0 133 0 45 2 1 0 48
Fulgent Genetics, Fulgent Genetics 0 27 0 45 0 0 1 46
True Health Diagnostics 0 3 0 41 0 0 0 41
Breast Cancer Information Core (BIC) (BRCA2) 0 57 0 0 38 0 1 39
Myriad Genetics, Inc. 0 112 0 26 12 0 0 38
Breast Cancer Information Core (BIC) (BRCA1) 0 46 0 4 28 0 2 34
All of Us Research Program, National Institutes of Health 0 127 0 22 3 0 0 25
Sema4, Sema4 0 55 0 20 3 1 0 24
Genome Diagnostics Laboratory, University Medical Center Utrecht 0 59 0 21 0 0 0 21
Pathway Genomics 0 33 0 20 0 0 0 20
Baylor Genetics 0 89 0 6 9 1 3 19
Natera, Inc. 0 55 0 14 1 0 0 15
Institute of Human Genetics, University of Leipzig Medical Center 0 21 0 5 5 1 3 14
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center 0 110 0 12 0 0 0 12
Sharing Clinical Reports Project (SCRP) 0 101 0 9 2 0 0 11
Leiden Open Variation Database 0 1 0 1 6 0 4 11
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 102 0 9 0 0 0 9
Center for Human Genetics, Inc, Center for Human Genetics, Inc 0 4 0 1 6 1 0 8
Genome Diagnostics Laboratory, Amsterdam University Medical Center 0 24 0 8 0 0 0 8
OMIM 0 17 0 0 5 1 1 7
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories 0 67 0 4 1 0 0 5
Michigan Medical Genetics Laboratories, University of Michigan 0 84 0 5 0 0 0 5
Department of Pathology and Laboratory Medicine, Sinai Health System 0 12 0 4 1 0 0 5
Division of Genomic Medicine, Department of Advanced Medicine, Medical Research Institute, Kanazawa Medical University 0 4 0 5 0 0 0 5
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 60 0 3 0 0 1 4
Neuberg Centre For Genomic Medicine, NCGM 0 15 0 3 0 1 0 4
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 11 0 2 0 1 0 3
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 200 0 2 1 0 0 3
Genomic Research Center, Shahid Beheshti University of Medical Sciences 0 5 0 3 0 0 0 3
Database of Curated Mutations (DoCM) 0 0 0 2 0 1 0 3
Department of Medical Genetics, University Hospital of North Norway 0 2 0 3 0 0 0 3
Genetics and Molecular Pathology, SA Pathology 0 16 0 2 1 0 0 3
Ding PR Lab, Sun Yat-sen University Cancer Center 0 0 0 1 2 0 0 3
Department of Medical and Surgical Sciences, University of Bologna 0 0 0 0 3 0 0 3
Biesecker Lab/Clinical Genomics Section, National Institutes of Health 0 6 0 2 0 0 0 2
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 9 0 2 0 0 0 2
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 0 7 0 2 0 0 0 2
CSER _CC_NCGL, University of Washington 0 2 0 1 0 0 1 2
Color Diagnostics, LLC DBA Color Health 0 62 0 2 0 0 0 2
Centre for Mendelian Genomics, University Medical Centre Ljubljana 0 5 0 1 0 1 0 2
Pars Genome Lab 0 0 0 2 0 0 0 2
3billion 0 2 0 1 0 1 0 2
Molecular Endocrinology Laboratory, Christian Medical College 0 6 0 0 2 0 0 2
University of Science and Technology Houari Boumediene, Laboratory of Molecular and Cellular Biology (LBCM) 0 2 0 2 0 0 0 2
BRCAlab, Lund University 0 57 0 1 1 0 0 2
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 10 0 0 0 1 0 1
King Laboratory, University of Washington 0 0 0 0 0 0 1 1
Revvity Omics, Revvity 0 5 0 1 0 0 0 1
MGZ Medical Genetics Center 0 17 0 1 0 0 0 1
Centogene AG - the Rare Disease Company 0 0 0 1 0 0 0 1
Intergen, Intergen Genetics and Rare Diseases Diagnosis Center 0 1 0 0 0 1 0 1
Mayo Clinic Laboratories, Mayo Clinic 0 0 0 0 1 0 0 1
Foulkes Cancer Genetics LDI, Lady Davis Institute for Medical Research 0 0 0 1 0 0 0 1
Victorian Clinical Genetics Services, Murdoch Childrens Research Institute 0 1 0 1 0 0 0 1
Quest Diagnostics Nichols Institute San Juan Capistrano 0 6 0 1 0 0 0 1
Human Genome Sequencing Center Clinical Lab, Baylor College of Medicine 0 7 0 0 0 1 0 1
HudsonAlpha Institute for Biotechnology, HudsonAlpha Institute for Biotechnology 0 5 0 1 0 0 0 1
Soonchunhyang University Bucheon Hospital, Soonchunhyang University Medical Center 0 0 0 0 1 0 0 1
Bioinformatics dept., Datar Cancer Genetics Limited, India 0 2 0 1 0 0 0 1
Undiagnosed Diseases Network, NIH 0 0 0 0 0 1 0 1
SIB Swiss Institute of Bioinformatics 0 3 0 1 0 0 0 1
Cancer Diagnostics Division, Gene Solutions 0 0 0 1 0 0 0 1
Department of Molecular Diagnostics, Institute of Oncology Ljubljana 0 12 0 0 0 0 1 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 8 0 0 1 0 0 1
University of Washington Department of Laboratory Medicine, University of Washington 0 4 0 0 0 0 1 1
Al Jalila Children's Genomics Center, Al Jalila Childrens Speciality Hospital 0 0 0 1 0 0 0 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 2 0 0 0 1 0 1
New York Genome Center 0 2 0 0 0 1 0 1
ISTH-SSC Genomics in Thrombosis and Hemostasis, KU Leuven, Center for Molecular and Vascular Biology 0 0 0 0 1 0 0 1
Center for Genomic Medicine, King Faisal Specialist Hospital and Research Center 0 6 0 0 0 0 1 1
Eurofins-Biomnis 0 0 0 0 0 1 0 1
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein 0 5 0 1 0 0 0 1
Arcensus 0 1 0 1 0 0 0 1
Nadeem Sheikh Lab, University of the Punjab 0 0 0 0 0 0 1 1
Laboratory of Molecular and Cytogenetics, Department of Anatomy, All India Institute of Medical Sciences (AIIMS) 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 662
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HGVS dbSNP gnomAD frequency
NM_000135.4(FANCA):c.1501G>A (p.Gly501Ser) rs2239359 0.51262
NM_000135.4(FANCA):c.2426G>A (p.Gly809Asp) rs7195066 0.46389
NM_000059.4(BRCA2):c.1114A>C (p.Asn372His) rs144848 0.23116
NM_000059.4(BRCA2):c.681+56C>T rs2126042 0.21010
NM_000179.3(MSH6):c.116G>A (p.Gly39Glu) rs1042821 0.18742
NM_000222.3(KIT):c.2586G>C (p.Leu862=) rs3733542 0.16755
NM_021922.3(FANCE):c.1504G>A (p.Ala502Thr) rs9462088 0.14730
NM_002691.4(POLD1):c.463+8G>T rs1726802 0.13898
NM_002691.4(POLD1):c.3218+10A>G rs2463239 0.11362
NM_000368.5(TSC1):c.2829C>T (p.Ala943=) rs4962081 0.08329
NM_000222.3(KIT):c.1621A>C (p.Met541Leu) rs3822214 0.07727
NM_000535.7(PMS2):c.59G>A (p.Arg20Gln) rs10254120 0.07445
NM_000057.4(BLM):c.2603C>T (p.Pro868Leu) rs2227935 0.06742
NM_032444.4(SLX4):c.1371T>G (p.Asn457Lys) rs74319927 0.06397
NM_000249.4(MLH1):c.1558+14G>A rs41562513 0.05554
NM_000135.4(FANCA):c.542C>T (p.Ala181Val) rs17232246 0.04972
NM_007294.4(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950 0.04695
NM_000264.5(PTCH1):c.3583A>T (p.Thr1195Ser) rs2236405 0.04656
NM_002691.4(POLD1):c.1548C>T (p.Ala516=) rs2230247 0.04514
NM_002691.4(POLD1):c.1539G>A (p.Leu513=) rs2230246 0.04513
NM_000135.4(FANCA):c.24C>G (p.Asn8Lys) rs76275444 0.04436
NM_001379610.1(SPINK1):c.174C>T (p.Cys58=) rs35737774 0.04434
NM_000059.4(BRCA2):c.9257-83G>A rs9595456 0.04317
NM_001379610.1(SPINK1):c.-41G>A rs79438751 0.03918
NM_000059.4(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426 0.03864
NM_000059.4(BRCA2):c.425+67A>C rs11571610 0.03705
NM_002691.4(POLD1):c.1860G>A (p.Thr620=) rs1726790 0.03590
NM_002691.4(POLD1):c.234C>G (p.Arg78=) rs2228665 0.03571
NM_001184.4(ATR):c.3725+18A>G rs73864554 0.03416
NM_000400.4(ERCC2):c.718+6G>T rs3916812 0.03337
NM_004629.2(FANCG):c.1133C>T (p.Ser378Leu) rs4986939 0.03269
NM_206937.2(LIG4):c.-7C>T rs4987182 0.03244
NM_002691.4(POLD1):c.518G>A (p.Ser173Asn) rs1726803 0.03166
NM_001379610.1(SPINK1):c.194+90A>T rs112569673 0.03151
NM_001379610.1(SPINK1):c.36G>C (p.Leu12Phe) rs35877720 0.03139
NM_001040108.2(MLH3):c.2159A>G (p.Tyr720Cys) rs28756988 0.02978
NM_004629.2(FANCG):c.890C>T (p.Thr297Ile) rs2237857 0.02968
NM_001018115.3(FANCD2):c.1367T>G (p.Leu456Arg) rs35782247 0.02918
NM_000135.4(FANCA):c.3348+18A>G rs1800347 0.02828
NM_002691.4(POLD1):c.1173C>T (p.Asp391=) rs2230244 0.02764
NM_006231.4(POLE):c.3379-5T>C rs5744886 0.02670
NM_000122.1(ERCC3):c.-69C>T rs9282675 0.02606
NM_016038.4(SBDS):c.635T>C (p.Ile212Thr) rs79344818 0.02573
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met) rs74902811 0.02492
NM_001113378.2(FANCI):c.3816+15A>T rs28493988 0.02368
NM_000249.4(MLH1):c.2152C>T (p.His718Tyr) rs2020873 0.02345
NM_006231.4(POLE):c.3126G>A (p.Lys1042=) rs5744856 0.02344
NM_000251.3(MSH2):c.380A>G (p.Asn127Ser) rs17217772 0.02317
NM_000535.7(PMS2):c.1488C>T (p.His496=) rs1805320 0.02307
NM_002253.4(KDR):c.1444T>C (p.Cys482Arg) rs34231037 0.02299
NM_000135.4(FANCA):c.2151G>T (p.Met717Ile) rs1131660 0.02234
NM_000535.7(PMS2):c.1531A>G (p.Thr511Ala) rs2228007 0.02174
NM_000465.4(BARD1):c.1933T>C (p.Cys645Arg) rs2228456 0.02135
NM_001005498.4(RHBDF2):c.1684A>G (p.Met562Val) rs73998915 0.02086
NM_006231.4(POLE):c.4290+5C>T rs5744936 0.02053
NM_006231.4(POLE):c.2340G>A (p.Ser780=) rs5744822 0.02051
NM_001040108.2(MLH3):c.666G>A (p.Lys222=) rs28756980 0.01977
NM_000251.3(MSH2):c.573C>T (p.Leu191=) rs1800151 0.01972
NM_007294.4(BRCA1):c.5075-53C>T rs8176258 0.01914
NM_001040108.2(MLH3):c.4242+13C>G rs77157930 0.01890
NM_022725.4(FANCF):c.825G>A (p.Leu275=) rs36045913 0.01879
NM_001166108.2(PALLD):c.3359-4G>A rs112116419 0.01852
NM_000135.4(FANCA):c.755A>G (p.Asp252Gly) rs17225943 0.01851
NM_000059.4(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117 0.01834
NM_006502.3(POLH):c.1783A>G (p.Met595Val) rs9333555 0.01768
NM_000251.3(MSH2):c.965G>A (p.Gly322Asp) rs4987188 0.01714
NM_002691.4(POLD1):c.1713C>T (p.Pro571=) rs2230248 0.01698
NM_000546.6(TP53):c.993+12T>C rs1800899 0.01614
NM_004304.5(ALK):c.2039C>T (p.Thr680Ile) rs35228363 0.01598
NM_000122.2(ERCC3):c.1119G>A (p.Gln373=) rs2228544 0.01580
NM_000136.3(FANCC):c.416G>A (p.Gly139Glu) rs1800362 0.01494
NM_001040108.2(MLH3):c.2533A>G (p.Ser845Gly) rs28756992 0.01483
NM_000136.3(FANCC):c.843+4C>T rs4647506 0.01468
NM_000465.4(BARD1):c.1670G>C (p.Cys557Ser) rs28997576 0.01443
NM_006231.4(POLE):c.2550C>T (p.Ile850=) rs5744834 0.01438
NM_000122.2(ERCC3):c.1485G>A (p.Glu495=) rs4150456 0.01434
NM_000251.3(MSH2):c.1077-10T>C rs17224360 0.01428
NM_006231.4(POLE):c.6418G>A (p.Glu2140Lys) rs5745066 0.01416
NM_006231.4(POLE):c.5678+4C>T rs5744973 0.01405
NM_000179.3(MSH6):c.1164C>T (p.His388=) rs55708305 0.01384
NM_000179.3(MSH6):c.2272C>T (p.Leu758=) rs56371757 0.01363
NM_004655.4(AXIN2):c.1615G>A (p.Val539Met) rs9913621 0.01361
NM_001040108.2(MLH3):c.691A>C (p.Lys231Gln) rs28756981 0.01348
NM_007294.4(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967 0.01348
NM_000122.2(ERCC3):c.1027+3A>G rs4150417 0.01342
NM_004304.5(ALK):c.-5G>A rs56270786 0.01336
NM_006231.4(POLE):c.91G>T (p.Ala31Ser) rs34047482 0.01320
NM_001370259.2(MEN1):c.512G>A (p.Arg171Gln) rs607969 0.01309
NM_000059.4(BRCA2):c.8830A>T (p.Ile2944Phe) rs4987047 0.01281
NM_002529.4(NTRK1):c.2047-11G>A rs79173278 0.01269
NM_001005498.4(RHBDF2):c.1638+12T>C rs114994065 0.01225
NM_001005498.4(RHBDF2):c.1837C>T (p.Leu613=) rs77626078 0.01225
NM_000059.4(BRCA2):c.8460A>C (p.Val2820=) rs9590940 0.01220
NM_001754.5(RUNX1):c.167T>C (p.Leu56Ser) rs111527738 0.01206
NM_000249.4(MLH1):c.474C>T (p.Asn158=) rs4647256 0.01161
NM_001040108.2(MLH3):c.1258G>A (p.Val420Ile) rs28756982 0.01142
NM_006231.4(POLE):c.2174-8G>A rs117409343 0.01137
NM_000251.3(MSH2):c.2766T>C (p.Phe922=) rs55859129 0.01118
NM_007294.4(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852 0.01109
NM_002691.4(POLD1):c.849G>T (p.Gln283His) rs113282414 0.01085
NM_000535.7(PMS2):c.1557T>C (p.Tyr519=) rs6972869 0.01065
NM_001379610.1(SPINK1):c.194+184T>A rs114094661 0.01063
NM_000059.4(BRCA2):c.8487+19A>G rs11571743 0.01055
NM_021922.3(FANCE):c.-56C>T rs4713866 0.01055
NM_007294.4(BRCA1):c.3418A>G (p.Ser1140Gly) rs2227945 0.01054
NM_001040108.2(MLH3):c.2896T>C (p.Ser966Pro) rs17782839 0.01052
NM_001184.4(ATR):c.891G>C (p.Lys297Asn) rs2229033 0.01036
NM_001379610.1(SPINK1):c.200G>A (p.Arg67His) rs35523678 0.01028
NM_007294.4(BRCA1):c.5406+68T>C rs8176307 0.01019
NM_000535.7(PMS2):c.1789A>T (p.Thr597Ser) rs1805318 0.01006
NM_001040108.2(MLH3):c.2825C>T (p.Thr942Ile) rs17102999 0.00989
NM_000059.4(BRCA2):c.7319A>G (p.His2440Arg) rs4986860 0.00984
NM_002691.4(POLD1):c.1761C>T (p.Ile587=) rs3218755 0.00976
NM_032444.4(SLX4):c.1153C>A (p.Pro385Thr) rs115694169 0.00968
NM_001184.4(ATR):c.6339A>G (p.Val2113=) rs7635479 0.00964
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu) rs56082113 0.00964
NM_006231.4(POLE):c.2928C>T (p.Arg976=) rs5744845 0.00958
NM_002529.4(NTRK1):c.53G>A (p.Gly18Glu) rs1007211 0.00957
NM_006231.4(POLE):c.5583A>C (p.Ser1861=) rs5744972 0.00949
NM_005236.3(ERCC4):c.252C>T (p.Leu84=) rs3136056 0.00941
NM_001040108.2(MLH3):c.8A>G (p.Lys3Arg) rs114829239 0.00905
NM_006231.4(POLE):c.5804G>A (p.Cys1935Tyr) rs5744991 0.00898
NM_001018115.3(FANCD2):c.2484G>A (p.Lys828=) rs55980657 0.00869
NM_000059.4(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707 0.00868
NM_004629.2(FANCG):c.1538G>A (p.Arg513Gln) rs17885240 0.00863
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123 0.00861
NM_000059.4(BRCA2):c.7806-40A>G rs9590939 0.00858
NM_001379610.1(SPINK1):c.231G>A (p.Gly77=) rs34809998 0.00827
NM_000249.4(MLH1):c.637G>A (p.Val213Met) rs2308317 0.00818
NM_000059.4(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769 0.00809
NM_006231.4(POLE):c.1007A>G (p.Asn336Ser) rs5744760 0.00805
NM_001378743.1(CYLD):c.1473C>T (p.Ile491=) rs75757530 0.00802
NM_001379610.1(SPINK1):c.101A>G (p.Asn34Ser) rs17107315 0.00797
NM_000059.4(BRCA2):c.3264T>C (p.Pro1088=) rs36060526 0.00793
NM_000059.4(BRCA2):c.7017G>C (p.Lys2339Asn) rs45574331 0.00792
NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile) rs11571831 0.00792
NM_000535.7(PMS2):c.1711C>A (p.Leu571Ile) rs63750055 0.00784
NM_000059.4(BRCA2):c.1788T>C (p.Asp596=) rs11571642 0.00768
NM_000465.4(BARD1):c.2212A>G (p.Ile738Val) rs61754118 0.00745
NM_000465.4(BARD1):c.1972C>T (p.Arg658Cys) rs3738888 0.00736
NM_001379610.1(SPINK1):c.56-37T>C rs17107318 0.00736
NM_001113378.2(FANCI):c.1813C>T (p.Leu605Phe) rs117125761 0.00708
NM_007294.4(BRCA1):c.1971A>G (p.Gln657=) rs28897679 0.00707
NM_002691.4(POLD1):c.88C>T (p.Arg30Trp) rs3218772 0.00706
NM_000368.5(TSC1):c.3324C>T (p.Gly1108=) rs35593170 0.00704
NM_001018113.3(FANCB):c.402A>G (p.Leu134=) rs147260208 0.00701
NM_000059.4(BRCA2):c.517-19C>T rs11571623 0.00693
NM_004629.2(FANCG):c.988C>T (p.Pro330Ser) rs4986940 0.00670
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) rs4987048 0.00655
NM_005236.3(ERCC4):c.2617A>G (p.Ile873Val) rs2020957 0.00625
NM_000321.3(RB1):c.1574C>G (p.Ala525Gly) rs4151539 0.00623
NM_032444.4(SLX4):c.90C>T (p.Ser30=) rs118089506 0.00612
NM_000059.4(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727 0.00609
NM_000059.4(BRCA2):c.9257-16T>C rs11571818 0.00597
NM_000059.4(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833 0.00597
NM_000143.4(FH):c.53C>T (p.Pro18Leu) rs201887750 0.00597
NM_002529.4(NTRK1):c.2272G>A (p.Ala758Thr) rs62640939 0.00591
NM_000038.6(APC):c.1959G>A (p.Arg653=) rs72541809 0.00583
NM_000249.4(MLH1):c.1038+51C>T rs55986674 0.00582
NM_032444.4(SLX4):c.5501A>G (p.Asn1834Ser) rs111738042 0.00575
NM_000321.3(RB1):c.2521-11G>A rs4151624 0.00570
NM_007194.4(CHEK2):c.1343T>G (p.Ile448Ser) rs17886163 0.00555
NM_001040108.2(MLH3):c.3217G>A (p.Asp1073Asn) rs28756993 0.00551
NM_006231.4(POLE):c.6494G>A (p.Arg2165His) rs5745068 0.00550
NM_000057.4(BLM):c.2075-12G>T rs28385027 0.00541
NM_000059.4(BRCA2):c.-11C>T rs76874770 0.00539
NM_000135.4(FANCA):c.1826+12C>T rs183513839 0.00518
NM_007294.4(BRCA1):c.5406+8T>C rs55946644 0.00514
NM_006231.4(POLE):c.6763A>T (p.Ile2255Phe) rs73155056 0.00513
NM_058216.3(RAD51C):c.572-17G>T rs193023469 0.00513
NM_000136.3(FANCC):c.77C>T (p.Ser26Phe) rs1800361 0.00511
NM_002451.4(MTAP):c.768T>G (p.Pro256=) rs62556500 0.00511
NM_001113378.2(FANCI):c.976-13A>T rs145864790 0.00501
NM_001113378.2(FANCI):c.1699-7C>A rs28446881 0.00498
NM_006231.4(POLE):c.1359+9G>A rs75135381 0.00498
NM_000057.4(BLM):c.615G>A (p.Lys205=) rs28903082 0.00496
NM_000377.3(WAS):c.995T>C (p.Val332Ala) rs2737799 0.00489
NM_017849.4(TMEM127):c.409+7C>T rs189327749 0.00487
NM_032043.3(BRIP1):c.2236A>G (p.Ile746Val) rs111536363 0.00480
NM_000546.6(TP53):c.672+31A>G rs34949160 0.00479
NM_000251.3(MSH2):c.1666T>C (p.Leu556=) rs61756466 0.00471
NM_007294.4(BRCA1):c.5468-10C>A rs8176316 0.00464
NM_001018115.3(FANCD2):c.1634A>G (p.Asn545Ser) rs145522204 0.00460
NM_001184.4(ATR):c.1328G>C (p.Arg443Thr) rs28367453 0.00450
NM_000179.3(MSH6):c.2633T>C (p.Val878Ala) rs2020912 0.00448
NM_006231.4(POLE):c.6817A>T (p.Thr2273Ser) rs73481453 0.00444
NM_000321.3(RB1):c.862-15C>A rs115108608 0.00442
NM_000179.3(MSH6):c.457+13A>G rs1800933 0.00434
NM_000135.4(FANCA):c.903G>T (p.Val301=) rs56062548 0.00432
NM_000057.4(BLM):c.3128C>A (p.Ala1043Asp) rs2229035 0.00421
NM_000245.4(MET):c.504G>T (p.Glu168Asp) rs55985569 0.00420
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689 0.00419
NM_001005498.4(RHBDF2):c.277G>A (p.Ala93Thr) rs114238341 0.00418
NM_000038.6(APC):c.933+30A>G rs145211300 0.00412
NM_002529.4(NTRK1):c.2339G>A (p.Arg780Gln) rs35669708 0.00406
NM_000127.3(EXT1):c.1959G>A (p.Glu653=) rs142710059 0.00404
NM_001113378.2(FANCI):c.1211T>C (p.Ile404Thr) rs79080874 0.00400
NM_000251.3(MSH2):c.1662-9G>A rs17218356 0.00398
NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg) rs55953736 0.00396
NM_001005498.4(RHBDF2):c.1812G>A (p.Val604=) rs138683747 0.00390
NM_000368.5(TSC1):c.1342C>T (p.Pro448Ser) rs118203518 0.00372
NM_004064.5(CDKN1B):c.426G>A (p.Thr142=) rs149775942 0.00366
NM_000321.3(RB1):c.1390-11A>G rs200658795 0.00365
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys) rs4988345 0.00363
NM_000136.3(FANCC):c.1394A>G (p.Gln465Arg) rs1800368 0.00361
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys) rs72541816 0.00358
NM_000059.4(BRCA2):c.2960A>T (p.Asn987Ile) rs2227944 0.00356
NM_000059.4(BRCA2):c.2786T>C (p.Leu929Ser) rs2227943 0.00355
NM_018062.4(FANCL):c.670A>G (p.Thr224Ala) rs149731356 0.00355
NM_058216.3(RAD51C):c.376G>A (p.Ala126Thr) rs61758784 0.00349
NM_000535.7(PMS2):c.1266G>A (p.Glu422=) rs138049175 0.00348
NM_006231.4(POLE):c.5135C>T (p.Ala1712Val) rs5744950 0.00346
NM_006231.4(POLE):c.2468+10C>T rs5744823 0.00342
NM_000135.4(FANCA):c.2216C>T (p.Pro739Leu) rs45441106 0.00341
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_004064.5(CDKN1B):c.577C>T (p.Leu193Phe) rs73281150 0.00338
NM_000135.4(FANCA):c.623C>T (p.Ser208Leu) rs144420697 0.00325
NM_000222.3(KIT):c.1383A>G (p.Thr461=) rs151016327 0.00324
NM_001040108.2(MLH3):c.3315C>A (p.Asp1105Glu) rs28757008 0.00323
NM_000135.4(FANCA):c.1626+16C>T rs1800333 0.00322
NM_058216.3(RAD51C):c.186A>G (p.Gln62=) rs28363303 0.00322
NM_000251.3(MSH2):c.339G>A (p.Lys113=) rs35898375 0.00313
NM_006231.4(POLE):c.779G>A (p.Arg260Gln) rs5744752 0.00312
NM_000059.4(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485 0.00307
NM_001042492.3(NF1):c.5235G>A (p.Lys1745=) rs17887014 0.00305
NM_032043.3(BRIP1):c.577G>A (p.Val193Ile) rs4988346 0.00305
NM_004304.5(ALK):c.2268C>T (p.Gly756=) rs149853746 0.00304
NM_000135.4(FANCA):c.857A>G (p.Gln286Arg) rs13336566 0.00303
NM_005591.4(MRE11):c.771A>G (p.Glu257=) rs13447632 0.00301
NM_007294.4(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530 0.00301
NM_001166108.2(PALLD):c.502C>G (p.Leu168Val) rs115607645 0.00299
NM_000249.4(MLH1):c.1963A>G (p.Ile655Val) rs55907433 0.00297
NM_002691.4(POLD1):c.783C>T (p.Val261=) rs34269084 0.00296
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=) rs28897724 0.00295
NM_002691.4(POLD1):c.778A>G (p.Ile260Val) rs8105725 0.00295
NM_006231.4(POLE):c.846C>T (p.Pro282=) rs5744758 0.00291
NM_001166108.2(PALLD):c.764G>A (p.Arg255His) rs146018183 0.00287
NM_005591.4(MRE11):c.1783+5G>C rs142082313 0.00284
NM_006231.4(POLE):c.6820C>G (p.Leu2274Val) rs148788180 0.00284
NM_001005498.4(RHBDF2):c.1396C>T (p.Arg466Trp) rs143503813 0.00278
NM_000059.4(BRCA2):c.68-7T>A rs81002830 0.00277
NM_001005498.4(RHBDF2):c.2265C>T (p.Ala755=) rs115094923 0.00277
NM_000059.4(BRCA2):c.4241C>T (p.Thr1414Met) rs70953664 0.00272
NM_000059.4(BRCA2):c.6323G>A (p.Arg2108His) rs35029074 0.00260
NM_000135.4(FANCA):c.2021C>T (p.Ser674Leu) rs17232973 0.00257
NM_001005498.4(RHBDF2):c.1809+7C>T rs200007588 0.00257
NM_021922.3(FANCE):c.248+7C>A rs186563531 0.00255
NM_006502.3(POLH):c.626G>T (p.Gly209Val) rs2307456 0.00253
NM_007294.4(BRCA1):c.4987-20A>G rs80358035 0.00252
NM_002529.4(NTRK1):c.612G>A (p.Ser204=) rs114320051 0.00251
NM_000057.4(BLM):c.3613G>A (p.Val1205Ile) rs28385141 0.00245
NM_000057.4(BLM):c.2075-14T>C rs28385026 0.00240
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile) rs1800744 0.00240
NM_020975.6(RET):c.1336G>C (p.Gly446Arg) rs115423919 0.00238
NM_003073.5(SMARCB1):c.628+13C>T rs184021903 0.00235
NM_004304.5(ALK):c.1943C>T (p.Thr648Ile) rs116202066 0.00232
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=) rs1799952 0.00228
NM_001113378.2(FANCI):c.1179T>C (p.Tyr393=) rs3743377 0.00228
NM_001018115.3(FANCD2):c.-6G>C rs3732974 0.00227
NM_002529.4(NTRK1):c.254G>A (p.Arg85His) rs79678945 0.00220
NM_001379610.1(SPINK1):c.88-23A>T rs199929811 0.00219
NM_000465.4(BARD1):c.620A>G (p.Lys207Arg) rs34969857 0.00218
NM_007294.4(BRCA1):c.2167A>G (p.Asn723Asp) rs4986845 0.00209
NM_000455.5(STK11):c.464+9G>A rs376313955 0.00208
NM_006231.4(POLE):c.5334C>T (p.Ala1778=) rs11146986 0.00205
NM_000059.4(BRCA2):c.7150C>A (p.Gln2384Lys) rs55977008 0.00203
NM_000059.4(BRCA2):c.8503T>C (p.Ser2835Pro) rs11571746 0.00202
NM_001005498.4(RHBDF2):c.1599C>T (p.Ser533=) rs145102618 0.00202
NM_001113378.2(FANCI):c.3592-8T>C rs185599057 0.00200
NM_001040108.2(MLH3):c.2425A>G (p.Met809Val) rs61752722 0.00197
NM_024426.6(WT1):c.309C>A (p.Gly103=) rs547333427 0.00197
NM_032043.3(BRIP1):c.584T>C (p.Leu195Pro) rs4988347 0.00197
NM_004304.5(ALK):c.1110G>A (p.Glu370=) rs138784554 0.00195
NM_007194.4(CHEK2):c.1407G>A (p.Val469=) rs17881378 0.00190
NM_002691.4(POLD1):c.378C>T (p.Arg126=) rs145324823 0.00188
NM_000135.4(FANCA):c.694A>C (p.Arg232=) rs61757384 0.00184
NM_000535.7(PMS2):c.23+10G>C rs192027828 0.00182
NM_000222.3(KIT):c.2805T>A (p.Ile935=) rs72549296 0.00176
NM_000465.4(BARD1):c.33G>T (p.Gln11His) rs143914387 0.00176
NM_002691.4(POLD1):c.773C>T (p.Thr258Met) rs76131127 0.00176
NM_000268.4(NF2):c.1123-6C>T rs147898623 0.00173
NM_001005498.4(RHBDF2):c.525G>A (p.Arg175=) rs151290253 0.00173
NM_000057.4(BLM):c.2119C>T (p.Pro707Ser) rs146077918 0.00172
NM_006231.4(POLE):c.6453C>T (p.Tyr2151=) rs116076060 0.00167
NM_002529.4(NTRK1):c.1354+18A>T rs73004759 0.00164
NM_003924.4(PHOX2B):c.642C>T (p.Gly214=) rs190973308 0.00162
NM_000038.6(APC):c.120G>A (p.Glu40=) rs142720069 0.00161
NM_000059.4(BRCA2):c.125A>G (p.Tyr42Cys) rs4987046 0.00158
NM_000321.3(RB1):c.380+10C>G rs187110786 0.00158
NM_000143.4(FH):c.1236+14C>T rs149241949 0.00157
NM_001113378.2(FANCI):c.2487T>G (p.Leu829=) rs145762491 0.00155
NM_001005498.4(RHBDF2):c.681G>A (p.Ser227=) rs33995520 0.00154
NM_002691.4(POLD1):c.971-4G>A rs200144991 0.00152
NM_007294.4(BRCA1):c.4113G>A (p.Gly1371=) rs147448807 0.00150
NM_001042492.3(NF1):c.846G>A (p.Gln282=) rs138840528 0.00149
NM_006231.4(POLE):c.5124C>T (p.Phe1708=) rs114891564 0.00149
NM_007294.4(BRCA1):c.4600G>A (p.Val1534Met) rs55815649 0.00145
NM_000251.3(MSH2):c.1387-8G>T rs187525243 0.00143
NM_002691.4(POLD1):c.2967G>A (p.Thr989=) rs3218752 0.00142
NM_005431.2(XRCC2):c.40-16T>C rs41274991 0.00141
NM_000548.5(TSC2):c.5260-15C>T rs45517416 0.00138
NM_004629.2(FANCG):c.20C>T (p.Ser7Phe) rs35984312 0.00138
NM_007294.4(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709 0.00137
NM_001379610.1(SPINK1):c.75C>T (p.Ser25=) rs35006579 0.00133
NM_024529.5(CDC73):c.-95G>A rs143969598 0.00133
NM_000059.4(BRCA2):c.10110G>A (p.Arg3370=) rs28897762 0.00132
NM_002769.5(PRSS1):c.592-11C>T rs183791770 0.00131
NM_002769.5(PRSS1):c.592-8C>T rs200381474 0.00131
NM_006231.4(POLE):c.6675C>T (p.Arg2225=) rs149973644 0.00125
NM_001018115.3(FANCD2):c.983G>A (p.Arg328Gln) rs35625434 0.00124
NM_007294.4(BRCA1):c.591C>T (p.Cys197=) rs1799965 0.00117
NM_000038.6(APC):c.3920T>A (p.Ile1307Lys) rs1801155 0.00116
NM_000548.5(TSC2):c.1946T>C (p.Met649Thr) rs45490792 0.00116
NM_000057.4(BLM):c.3849G>A (p.Gln1283=) rs140524886 0.00115
NM_000038.6(APC):c.423-17T>A rs534684461 0.00114
NM_032444.4(SLX4):c.3676C>T (p.Arg1226Trp) rs142008398 0.00114
NM_002691.4(POLD1):c.2979G>A (p.Thr993=) rs3218774 0.00112
NM_000135.4(FANCA):c.80-13C>T rs189841793 0.00110
NM_002691.4(POLD1):c.33C>T (p.Pro11=) rs3218768 0.00109
NM_020975.6(RET):c.1197G>A (p.Pro399=) rs148371113 0.00108
NM_000059.4(BRCA2):c.9235G>A (p.Val3079Ile) rs55933907 0.00106
NM_001184.4(ATR):c.2637C>T (p.Ala879=) rs150512706 0.00105
NM_032043.3(BRIP1):c.790C>T (p.Arg264Trp) rs28997569 0.00104
NM_005591.4(MRE11):c.1798G>C (p.Glu600Gln) rs145415033 0.00103
NM_000179.3(MSH6):c.984C>T (p.Ser328=) rs138143769 0.00101
NM_000251.3(MSH2):c.819A>G (p.Val273=) rs146577635 0.00101
NM_000548.5(TSC2):c.275A>T (p.Glu92Val) rs137853994 0.00101
NM_001184.4(ATR):c.4200A>T (p.Leu1400=) rs150562945 0.00101
NM_000535.7(PMS2):c.353+9A>C rs139990791 0.00099
NM_002691.4(POLD1):c.1620C>T (p.Gly540=) rs140216790 0.00098
NM_000038.6(APC):c.2262T>G (p.Val754=) rs148987776 0.00096
NM_004304.5(ALK):c.2148C>T (p.Ser716=) rs55733526 0.00096
NM_002529.4(NTRK1):c.1080G>A (p.Thr360=) rs2274498 0.00095
NM_004304.5(ALK):c.2613C>T (p.Asn871=) rs150557024 0.00093
NM_152594.3(SPRED1):c.675C>T (p.Ser225=) rs144764225 0.00092
NM_002691.4(POLD1):c.2628C>T (p.Ile876=) rs75874199 0.00088
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn) rs41294980 0.00087
NM_004304.5(ALK):c.2430C>T (p.Ser810=) rs150292405 0.00086
NM_032444.4(SLX4):c.3774C>T (p.Pro1258=) rs146054214 0.00085
NM_000548.5(TSC2):c.856A>G (p.Met286Val) rs1800748 0.00083
NM_001042492.3(NF1):c.3468C>T (p.Asn1156=) rs147955381 0.00083
NM_001005498.4(RHBDF2):c.510G>A (p.Pro170=) rs140265206 0.00082
NM_001005498.4(RHBDF2):c.546G>A (p.Pro182=) rs3744044 0.00082
NM_002691.4(POLD1):c.2565-17G>A rs200576676 0.00078
NM_000249.4(MLH1):c.1151T>A (p.Val384Asp) rs63750447 0.00077
NM_001018115.3(FANCD2):c.78A>C (p.Gln26His) rs45510294 0.00075
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475 0.00074
NM_001018115.3(FANCD2):c.577A>G (p.Thr193Ala) rs34936017 0.00070
NM_001166108.2(PALLD):c.2199+8G>A rs200060953 0.00070
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415 0.00069
NM_206937.2(LIG4):c.285G>A (p.Glu95=) rs150146196 0.00069
NM_000548.5(TSC2):c.1378G>A (p.Ala460Thr) rs137854154 0.00068
NM_000548.5(TSC2):c.4007C>T (p.Ser1336Leu) rs148527903 0.00067
NM_000143.4(FH):c.105G>A (p.Ser35=) rs181655698 0.00066
NM_005475.3(SH2B3):c.622G>C (p.Glu208Gln) rs202080221 0.00066
NM_007294.4(BRCA1):c.2733A>G (p.Gly911=) rs1800740 0.00066
NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile) rs1800704 0.00065
NM_007294.4(BRCA1):c.981A>G (p.Thr327=) rs1800063 0.00065
NM_000135.4(FANCA):c.2364C>T (p.Ala788=) rs149754397 0.00064
NM_007294.4(BRCA1):c.3302G>A (p.Ser1101Asn) rs41293447 0.00064
NM_004304.5(ALK):c.932G>A (p.Arg311His) rs150966028 0.00063
NM_002691.4(POLD1):c.3218+17G>A rs375490101 0.00061
NM_018062.4(FANCL):c.203G>C (p.Arg68Pro) rs143819820 0.00061
NM_000455.5(STK11):c.945G>A (p.Pro315=) rs376329042 0.00060
NM_002351.5(SH2D1A):c.-74T>A rs142160401 0.00059
NM_000127.3(EXT1):c.1782G>A (p.Ala594=) rs61753261 0.00058
NM_000127.3(EXT1):c.1779C>T (p.Pro593=) rs143881630 0.00056
NM_002691.4(POLD1):c.1138-8A>G rs41544624 0.00056
NM_000135.4(FANCA):c.3183C>T (p.Ser1061=) rs1800346 0.00053
NM_000245.4(MET):c.3523-12C>G rs186524917 0.00053
NM_144997.7(FLCN):c.1269C>T (p.His423=) rs41464156 0.00053
NM_000548.5(TSC2):c.1593C>T (p.Ile531=) rs45517180 0.00051
NM_000059.4(BRCA2):c.7544C>T (p.Thr2515Ile) rs28897744 0.00048
NM_001005498.4(RHBDF2):c.1486A>G (p.Lys496Glu) rs150723002 0.00048
NM_001379610.1(SPINK1):c.33C>T (p.Ala11=) rs147454311 0.00048
NM_004304.5(ALK):c.2343C>T (p.Asp781=) rs61754933 0.00048
NM_032444.4(SLX4):c.3189C>T (p.Gly1063=) rs200742809 0.00047
NM_058216.3(RAD51C):c.706-18T>C rs56401264 0.00047
NM_002691.4(POLD1):c.2103C>T (p.Tyr701=) rs201483538 0.00046
NM_004304.5(ALK):c.3057C>A (p.Val1019=) rs138406372 0.00043
NM_000127.3(EXT1):c.1536+7G>A rs200128437 0.00041
NM_000264.5(PTCH1):c.3907C>T (p.Arg1303Cys) rs56102979 0.00041
NM_001754.5(RUNX1):c.1269C>T (p.Arg423=) rs544247912 0.00040
NM_001370259.2(MEN1):c.18C>T (p.Ala6=) rs369348210 0.00039
NM_006231.4(POLE):c.2026+9C>T rs373790607 0.00038
NM_000249.4(MLH1):c.977T>C (p.Val326Ala) rs63751049 0.00037
NM_000136.3(FANCC):c.457-18A>G rs377206543 0.00036
NM_004260.4(RECQL4):c.2426G>A (p.Gly809Glu) rs550469990 0.00036
NM_024426.6(WT1):c.216G>T (p.Gln72His) rs5030135 0.00036
NM_000135.4(FANCA):c.3583C>T (p.Arg1195Trp) rs143642304 0.00035
NM_006231.4(POLE):c.2602C>T (p.Leu868=) rs115830215 0.00035
NM_000222.3(KIT):c.878A>G (p.Asn293Ser) rs137909416 0.00034
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931 0.00034
NM_000251.3(MSH2):c.2154A>G (p.Gln718=) rs63750810 0.00033
NM_000059.4(BRCA2):c.8187G>T (p.Lys2729Asn) rs80359065 0.00032
NM_000059.4(BRCA2):c.5785A>G (p.Ile1929Val) rs79538375 0.00031
NM_001042492.3(NF1):c.8041A>G (p.Ile2681Val) rs146315101 0.00031
NM_004655.4(AXIN2):c.2213C>T (p.Ser738Phe) rs139209450 0.00031
NM_000135.4(FANCA):c.2637C>T (p.Ala879=) rs149435806 0.00029
NM_000251.3(MSH2):c.471C>A (p.Gly157=) rs61756463 0.00029
NM_000268.4(NF2):c.1340+8G>T rs370604189 0.00029
NM_004304.5(ALK):c.2526C>T (p.Ala842=) rs145271283 0.00029
NM_007294.4(BRCA1):c.1648A>C (p.Asn550His) rs56012641 0.00029
NM_007294.4(BRCA1):c.536A>G (p.Tyr179Cys) rs56187033 0.00029
NM_000038.6(APC):c.3511C>T (p.Arg1171Cys) rs201830995 0.00028
NM_000136.3(FANCC):c.973G>A (p.Ala325Thr) rs201407189 0.00028
NM_004629.2(FANCG):c.1545C>T (p.Ala515=) rs201422773 0.00028
NM_007294.4(BRCA1):c.548-17G>T rs80358014 0.00028
NM_006231.4(POLE):c.4941C>T (p.Phe1647=) rs145639967 0.00027
NM_000059.4(BRCA2):c.6853A>G (p.Ile2285Val) rs56272235 0.00026
NM_000268.4(NF2):c.-18G>A rs201591536 0.00026
NM_000548.5(TSC2):c.5028G>A (p.Leu1676=) rs45475501 0.00026
NM_032444.4(SLX4):c.86G>A (p.Arg29His) rs149117119 0.00026
NM_000135.4(FANCA):c.2101A>G (p.Lys701Glu) rs56369086 0.00025
NM_000135.4(FANCA):c.399C>T (p.His133=) rs56190097 0.00025
NM_002451.4(MTAP):c.179+12T>A rs369294437 0.00025
NM_002691.4(POLD1):c.624G>A (p.Pro208=) rs78996304 0.00025
NM_004655.4(AXIN2):c.1059+8C>T rs367595502 0.00025
NM_005475.3(SH2B3):c.1183G>A (p.Glu395Lys) rs148636776 0.00025
NM_006231.4(POLE):c.1405C>T (p.Leu469=) rs368303888 0.00025
NM_000548.5(TSC2):c.1443+4C>T rs45517172 0.00024
NM_001005498.4(RHBDF2):c.613C>T (p.Arg205Cys) rs138968491 0.00024
NM_004260.4(RECQL4):c.2953G>A (p.Val985Met) rs200629599 0.00024
NM_000546.6(TP53):c.216C>T (p.Pro72=) rs56275308 0.00022
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755 0.00021
NM_000548.5(TSC2):c.3420C>T (p.Gly1140=) rs373968155 0.00021
NM_004304.5(ALK):c.3035C>T (p.Thr1012Met) rs35073634 0.00021
NM_005591.4(MRE11):c.1491C>T (p.Ile497=) rs199634245 0.00021
NM_005591.4(MRE11):c.845+11T>C rs140145979 0.00021
NM_000059.4(BRCA2):c.198A>G (p.Gln66=) rs28897700 0.00020
NM_000059.4(BRCA2):c.5710C>G (p.Leu1904Val) rs55875643 0.00020
NM_000548.5(TSC2):c.251C>T (p.Ala84Val) rs35660529 0.00019
NM_000548.5(TSC2):c.5289C>T (p.Pro1763=) rs144965811 0.00019
NM_001005498.4(RHBDF2):c.1638+7G>A rs201989863 0.00019
NM_001113378.2(FANCI):c.1963G>A (p.Gly655Arg) rs138026584 0.00019
NM_004304.5(ALK):c.487G>T (p.Val163Leu) rs55697431 0.00019
NM_006231.4(POLE):c.3378+10A>G rs193075152 0.00019
NM_000546.6(TP53):c.1014C>T (p.Phe338=) rs150293825 0.00018
NM_000546.6(TP53):c.74+14T>C rs184743157 0.00018
NM_001370259.2(MEN1):c.762G>A (p.Leu254=) rs199909967 0.00018
NM_000264.5(PTCH1):c.1728+16T>A rs758961945 0.00017
NM_000038.6(APC):c.6510A>C (p.Pro2170=) rs138571760 0.00016
NM_000249.4(MLH1):c.2101C>A (p.Gln701Lys) rs63750114 0.00016
NM_000368.5(TSC1):c.1936A>G (p.Met646Val) rs145741748 0.00016
NM_000368.5(TSC1):c.3435G>A (p.Pro1145=) rs140352085 0.00016
NM_001005498.4(RHBDF2):c.314G>A (p.Gly105Glu) rs142642633 0.00016
NM_004304.5(ALK):c.2478C>T (p.Tyr826=) rs142126984 0.00016
NM_032444.4(SLX4):c.2628C>T (p.Asp876=) rs201279467 0.00016
NM_000059.4(BRCA2):c.4061C>T (p.Thr1354Met) rs80358656 0.00014
NM_000368.5(TSC1):c.1333+13C>T rs118203516 0.00014
NM_000546.6(TP53):c.672+18G>C rs199578278 0.00014
NM_000143.4(FH):c.739-10T>C rs201971572 0.00013
NM_000059.4(BRCA2):c.1889C>T (p.Thr630Ile) rs80358479 0.00012
NM_000059.4(BRCA2):c.3055C>G (p.Leu1019Val) rs55638633 0.00012
NM_000136.3(FANCC):c.1509G>A (p.Thr503=) rs144278080 0.00011
NM_000264.5(PTCH1):c.2561-7T>C rs112140654 0.00011
NM_000548.5(TSC2):c.1946+20C>T rs372149311 0.00011
NM_000548.5(TSC2):c.3468A>G (p.Pro1156=) rs147242130 0.00011
NM_002691.4(POLD1):c.645G>A (p.Ala215=) rs377058651 0.00011
NM_004304.5(ALK):c.3139G>A (p.Ala1047Thr) rs370049091 0.00011
NM_007294.4(BRCA1):c.1065G>A (p.Lys355=) rs41286292 0.00011
NM_007294.4(BRCA1):c.2596C>T (p.Arg866Cys) rs41286300 0.00011
NM_007294.4(BRCA1):c.693G>A (p.Thr231=) rs62625298 0.00011
NM_032444.4(SLX4):c.833G>A (p.Arg278Gln) rs201192909 0.00011
NM_000059.4(BRCA2):c.2488A>G (p.Asn830Asp) rs574039421 0.00010
NM_000455.5(STK11):c.787T>C (p.Leu263=) rs372378119 0.00010
NM_058216.3(RAD51C):c.431T>C (p.Ile144Thr) rs28363307 0.00010
NM_000038.6(APC):c.2586C>G (p.Asn862Lys) rs147972247 0.00009
NM_000059.4(BRCA2):c.2538A>C (p.Ser846=) rs11571654 0.00009
NM_000135.4(FANCA):c.1900+7T>A rs377401016 0.00009
NM_000136.3(FANCC):c.251-20T>C rs370867462 0.00009
NM_000249.4(MLH1):c.1808C>G (p.Pro603Arg) rs63750876 0.00009
NM_001042492.3(NF1):c.5757G>A (p.Glu1919=) rs141077224 0.00009
NM_004168.4(SDHA):c.1661G>A (p.Arg554Gln) rs376391115 0.00009
NM_004304.5(ALK):c.1128C>T (p.Leu376=) rs200396075 0.00009
NM_004304.5(ALK):c.2632+8G>A rs199653862 0.00009
NM_006231.4(POLE):c.2174-11G>A rs111570840 0.00009
NM_007194.4(CHEK2):c.1095+19G>A rs200020484 0.00009
NM_000179.3(MSH6):c.2281A>G (p.Arg761Gly) rs199876321 0.00008
NM_000548.5(TSC2):c.3815-16C>T rs546810161 0.00008
NM_001018115.3(FANCD2):c.672C>T (p.His224=) rs371928644 0.00008
NM_001048174.2(MUTYH):c.901G>A (p.Val301Met) rs147718169 0.00008
NM_006231.4(POLE):c.3378+7G>T rs755370377 0.00008
NM_000059.4(BRCA2):c.257T>C (p.Leu86Pro) rs572782576 0.00007
NM_004304.5(ALK):c.4473G>A (p.Lys1491=) rs148987382 0.00007
NM_007194.4(CHEK2):c.1421G>A (p.Arg474His) rs121908706 0.00007
NM_000057.4(BLM):c.2898C>G (p.Leu966=) rs201220226 0.00006
NM_000059.4(BRCA2):c.1011C>T (p.Asn337=) rs41293473 0.00006
NM_000135.4(FANCA):c.3031C>T (p.Arg1011Cys) rs142377616 0.00006
NM_000136.3(FANCC):c.609C>T (p.Leu203=) rs567226063 0.00006
NM_000249.4(MLH1):c.954C>T (p.His318=) rs146777069 0.00006
NM_000455.5(STK11):c.734+17C>G rs751929304 0.00006
NM_000535.7(PMS2):c.477G>A (p.Val159=) rs147701251 0.00006
NM_000548.5(TSC2):c.363C>T (p.Ala121=) rs45517106 0.00006
NM_001166108.2(PALLD):c.-8G>A rs372273201 0.00006
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu) rs587780180 0.00006
NM_007194.4(CHEK2):c.847-17T>C rs199780411 0.00006
NM_007294.4(BRCA1):c.4636G>A (p.Asp1546Asn) rs28897691 0.00006
NM_000135.4(FANCA):c.2015-5C>T rs780349960 0.00005
NM_000136.3(FANCC):c.1560C>T (p.His520=) rs150020474 0.00005
NM_000368.5(TSC1):c.618T>C (p.His206=) rs118203415 0.00005
NM_000455.5(STK11):c.666C>T (p.Pro222=) rs542189325 0.00005
NM_144997.7(FLCN):c.1692C>T (p.His564=) rs201810397 0.00005
NM_000051.4(ATM):c.8147T>C (p.Val2716Ala) rs587782652 0.00004
NM_000179.3(MSH6):c.2904C>G (p.Val968=) rs150683226 0.00004
NM_000251.3(MSH2):c.2580G>A (p.Ser860=) rs752428475 0.00004
NM_000455.5(STK11):c.795G>A (p.Glu265=) rs730881963 0.00004
NM_000465.4(BARD1):c.1473G>A (p.Gly491=) rs151080730 0.00004
NM_000465.4(BARD1):c.1678-18C>G rs376045331 0.00004
NM_000546.6(TP53):c.255T>C (p.Pro85=) rs775515332 0.00004
NM_000548.5(TSC2):c.3225C>T (p.Thr1075=) rs374145104 0.00004
NM_002451.4(MTAP):c.603G>A (p.Glu201=) rs189392570 0.00004
NM_002691.4(POLD1):c.1383+8C>T rs374719944 0.00004
NM_007294.4(BRCA1):c.1511G>A (p.Arg504His) rs56272539 0.00004
NM_007294.4(BRCA1):c.75C>T (p.Pro25=) rs80356839 0.00004
NM_144997.7(FLCN):c.1300+12C>T rs565983064 0.00004
NM_000059.4(BRCA2):c.3682A>G (p.Asn1228Asp) rs28897722 0.00003
NM_000059.4(BRCA2):c.8010G>A (p.Ser2670=) rs146430937 0.00003
NM_000136.3(FANCC):c.438T>C (p.Tyr146=) rs765990832 0.00003
NM_000179.3(MSH6):c.-8C>T rs565211544 0.00003
NM_000179.3(MSH6):c.3426G>A (p.Thr1142=) rs747771350 0.00003
NM_000368.5(TSC1):c.2700G>A (p.Gln900=) rs560986491 0.00003
NM_000455.5(STK11):c.1035C>T (p.His345=) rs751619208 0.00003
NM_000455.5(STK11):c.464+10C>T rs587782445 0.00003
NM_000546.6(TP53):c.903A>G (p.Pro301=) rs72661120 0.00003
NM_000548.5(TSC2):c.1600-10C>T rs768188836 0.00003
NM_000548.5(TSC2):c.672C>T (p.Ala224=) rs138897064 0.00003
NM_000548.5(TSC2):c.711G>A (p.Pro237=) rs189380607 0.00003
NM_004304.5(ALK):c.2127C>A (p.Asn709Lys) rs376175333 0.00003
NM_004329.3(BMPR1A):c.68-12A>G rs201120747 0.00003
NM_006231.4(POLE):c.5478G>T (p.Arg1826=) rs537648186 0.00003
NM_000038.6(APC):c.5271T>C (p.Ser1757=) rs752875511 0.00002
NM_000059.4(BRCA2):c.9934A>G (p.Ile3312Val) rs80359254 0.00002
NM_000127.3(EXT1):c.1360G>A (p.Val454Ile) rs201504622 0.00002
NM_000245.4(MET):c.1965+14T>C rs543293293 0.00002
NM_000368.5(TSC1):c.3075C>T (p.Ser1025=) rs765753157 0.00002
NM_000368.5(TSC1):c.597C>T (p.Phe199=) rs202242304 0.00002
NM_000535.7(PMS2):c.1170G>A (p.Ala390=) rs755578413 0.00002
NM_000546.6(TP53):c.510G>A (p.Thr170=) rs757544615 0.00002
NM_000548.5(TSC2):c.411C>T (p.His137=) rs776129896 0.00002
NM_001048174.2(MUTYH):c.637C>T (p.Arg213Trp) rs34126013 0.00002
NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu) rs370228071 0.00002
NM_003000.3(SDHB):c.765+13G>A rs115561881 0.00002
NM_004168.4(SDHA):c.1765C>T (p.Arg589Trp) rs387906780 0.00002
NM_007294.4(BRCA1):c.4097-11T>C rs80358072 0.00002
NM_024675.4(PALB2):c.995T>A (p.Leu332His) rs377149139 0.00002
NM_032043.3(BRIP1):c.1433A>G (p.His478Arg) rs45501097 0.00002
NM_000038.6(APC):c.1744-14C>A rs761403505 0.00001
NM_000038.6(APC):c.597G>A (p.Ala199=) rs587780601 0.00001
NM_000038.6(APC):c.759C>G (p.Gly253=) rs746850663 0.00001
NM_000051.4(ATM):c.6154G>A (p.Glu2052Lys) rs202206540 0.00001
NM_000059.4(BRCA2):c.5427C>T (p.Cys1809=) rs80359791 0.00001
NM_000059.4(BRCA2):c.7628A>G (p.Tyr2543Cys) rs431825354 0.00001
NM_000059.4(BRCA2):c.9154C>T (p.Arg3052Trp) rs45580035 0.00001
NM_000135.4(FANCA):c.3538G>A (p.Val1180Met) rs372706571 0.00001
NM_000179.3(MSH6):c.2982C>T (p.Tyr994=) rs367758473 0.00001
NM_000264.5(PTCH1):c.3940C>T (p.Pro1314Ser) rs574856671 0.00001
NM_000264.5(PTCH1):c.4050G>A (p.Arg1350=) rs748440992 0.00001
NM_000314.8(PTEN):c.210-9T>C rs751744545 0.00001
NM_000368.5(TSC1):c.1002G>A (p.Ser334=) rs200820603 0.00001
NM_000368.5(TSC1):c.1257C>G (p.Pro419=) rs369642207 0.00001
NM_000546.6(TP53):c.473G>A (p.Arg158His) rs587782144 0.00001
NM_000546.6(TP53):c.844C>T (p.Arg282Trp) rs28934574 0.00001
NM_000548.5(TSC2):c.1361+20C>G rs538626543 0.00001
NM_000548.5(TSC2):c.1854G>C (p.Leu618=) rs1060504088 0.00001
NM_000548.5(TSC2):c.2128C>T (p.Leu710=) rs1225700612 0.00001
NM_000548.5(TSC2):c.2484G>A (p.Val828=) rs780395534 0.00001
NM_000548.5(TSC2):c.2607C>T (p.Phe869=) rs750336814 0.00001
NM_000548.5(TSC2):c.2748G>A (p.Leu916=) rs757674443 0.00001
NM_000548.5(TSC2):c.3699C>T (p.Asn1233=) rs773240506 0.00001
NM_000548.5(TSC2):c.4273G>A (p.Gly1425Arg) rs763497329 0.00001
NM_000548.5(TSC2):c.481+9C>T rs201026150 0.00001
NM_000548.5(TSC2):c.5061C>T (p.Cys1687=) rs779923426 0.00001
NM_000548.5(TSC2):c.704G>A (p.Ser235Asn) rs397514957 0.00001
NM_002878.4(RAD51D):c.619T>C (p.Ser207Pro) rs372365287 0.00001
NM_005591.4(MRE11):c.1780A>G (p.Arg594Gly) rs576878377 0.00001
NM_007294.4(BRCA1):c.1333G>C (p.Glu445Gln) rs80356915 0.00001
NM_007294.4(BRCA1):c.2584A>G (p.Lys862Glu) rs80356927 0.00001
NM_007294.4(BRCA1):c.4520G>C (p.Arg1507Thr) rs80357470 0.00001
NM_007294.4(BRCA1):c.5022C>T (p.Ile1674=) rs786203868 0.00001
NM_007294.4(BRCA1):c.5503C>T (p.Arg1835Ter) rs41293465 0.00001
NM_007294.4(BRCA1):c.996G>T (p.Arg332=) rs80356836 0.00001
NM_016038.4(SBDS):c.652C>T (p.Arg218Ter) rs113993998 0.00001
NM_017849.4(TMEM127):c.534C>T (p.Tyr178=) rs550833832 0.00001
NM_020975.6(RET):c.2671T>G (p.Ser891Ala) rs75234356 0.00001
NM_024529.5(CDC73):c.1011C>T (p.Ala337=) rs372567546 0.00001
NM_032444.4(SLX4):c.3245A>G (p.Gln1082Arg) rs368657696 0.00001
NM_000038.6(APC):c.2031C>T (p.Val677=) rs769363082
NM_000038.6(APC):c.3795A>G (p.Glu1265=) rs1554085311
NM_000038.6(APC):c.3927_3931del (p.Glu1309fs) rs121913224
NM_000059.4(BRCA2):c.1166C>A (p.Pro389Gln) rs397507263
NM_000059.4(BRCA2):c.1627C>A (p.His543Asn) rs80358446
NM_000059.4(BRCA2):c.1813del (p.Ile605fs) rs80359306
NM_000059.4(BRCA2):c.3966C>T (p.Asn1322=) rs80358647
NM_000059.4(BRCA2):c.4090A>C (p.Ile1364Leu) rs56248502
NM_000059.4(BRCA2):c.4284dup (p.Gln1429fs) rs80359439
NM_000059.4(BRCA2):c.4570_4573del (p.Phe1524fs) rs1057517565
NM_000059.4(BRCA2):c.5976A>G (p.Ser1992=) rs748854546
NM_000059.4(BRCA2):c.7024C>T (p.Gln2342Ter) rs80358928
NM_000059.4(BRCA2):c.7563C>A (p.Ile2521=) rs786204282
NM_000059.4(BRCA2):c.7792GAA[1] (p.Glu2599del) rs80359682
NM_000059.4(BRCA2):c.8332-2A>G rs587782774
NM_000059.4(BRCA2):c.8487+47C>T rs11571744
NM_000059.4(BRCA2):c.9414A>G (p.Leu3138=) rs80359807
NM_000059.4(BRCA2):c.9613_9614delinsCT (p.Ala3205Leu) rs276174926
NM_000135.4(FANCA):c.1290G>A (p.Ala430=) rs1800332
NM_000135.4(FANCA):c.2602-19G>C rs17233225
NM_000136.3(FANCC):c.1485G>A (p.Leu495=) rs56082100
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.3354G>A (p.Glu1118=) rs35642130
NM_000179.3(MSH6):c.4068_4071dup (p.Lys1358delinsAspTer) rs55740729
NM_000222.3(KIT):c.252G>T (p.Thr84=) rs56411694
NM_000249.4(MLH1):c.1852_1853delinsGC (p.Lys618Ala) rs35502531
NM_000249.4(MLH1):c.350C>T (p.Thr117Met) rs63750781
NM_000251.2(MSH2):c.-68G>A rs576303132
NM_000251.3(MSH2):c.67T>C (p.Phe23Leu) rs372619120
NM_000264.5(PTCH1):c.2198C>G (p.Ser733Ter) rs1311804361
NM_000455.5(STK11):c.579C>A (p.Ser193=) rs730881961
NM_000465.4(BARD1):c.1075_1095del (p.Leu359_Pro365del) rs28997575
NM_000465.4(BARD1):c.607G>A (p.Gly203Arg) rs730881415
NM_000535.7(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000546.6(TP53):c.374C>G (p.Thr125Arg) rs786201057
NM_000548.5(TSC2):c.2763C>T (p.Leu921=) rs771817176
NM_000548.5(TSC2):c.3102C>G (p.Val1034=) rs562998574
NM_000548.5(TSC2):c.3126G>A (p.Pro1042=) rs36078782
NM_000548.5(TSC2):c.4524CTT[1] (p.Phe1510del) rs137854239
NM_000551.4(VHL):c.575C>T (p.Pro192Leu) rs902694906
NM_001005498.4(RHBDF2):c.1380C>A (p.Arg460=) rs34005184
NM_001042492.3(NF1):c.2915T>C (p.Leu972Pro) rs1597716348
NM_001048174.2(MUTYH):c.1143_1144dup (p.Glu382fs) rs587780078
NM_001048174.2(MUTYH):c.228C>A (p.Tyr76Ter) rs121908380
NM_001378743.1(CYLD):c.1292G>A (p.Gly431Glu) rs200494719
NM_002351.5(SH2D1A):c.48C>A (p.Gly16=) rs72610640
NM_002691.4(POLD1):c.1494+5C>T rs565428379
NM_002691.4(POLD1):c.324G>T (p.Ala108=) rs20582
NM_004260.4(RECQL4):c.2086C>A (p.Arg696Ser) rs531970883
NM_004304.5(ALK):c.2073C>T (p.Ser691=) rs370435082
NM_005157.6(ABL1):c.944C>T (p.Thr315Ile) rs121913459
NM_005373.3(MPL):c.317C>T (p.Pro106Leu) rs750046020
NM_006231.4(POLE):c.1781C>T (p.Thr594Ile) rs574033788
NM_006231.4(POLE):c.2083T>A (p.Phe695Ile) rs5744799
NM_006231.4(POLE):c.2089C>T (p.Pro697Ser) rs5744800
NM_006231.4(POLE):c.3905T>C (p.Leu1302Pro) rs766058852
NM_006231.4(POLE):c.5570A>G (p.Lys1857Arg) rs5744971
NM_007194.4(CHEK2):c.1259G>A (p.Cys420Tyr) rs578218280
NM_007194.4(CHEK2):c.444+2T>C rs560596101
NM_007294.4(BRCA1):c.121C>T (p.His41Tyr) rs1060502353
NM_007294.4(BRCA1):c.131G>T (p.Cys44Phe) rs80357446
NM_007294.4(BRCA1):c.191G>A (p.Cys64Tyr) rs55851803
NM_007294.4(BRCA1):c.3328_3330del (p.Lys1110del) rs80358335
NM_007294.4(BRCA1):c.4065_4068del (p.Asn1355fs) rs80357508
NM_007294.4(BRCA1):c.4165_4166del (p.Gln1388_Ser1389insTer) rs80357572
NM_007294.4(BRCA1):c.4484+1G>A rs80358063
NM_007294.4(BRCA1):c.4675G>C (p.Glu1559Gln) rs80356988
NM_007294.4(BRCA1):c.5074+3A>G rs80358181
NM_007294.4(BRCA1):c.5302del (p.Cys1768fs) rs886040289
NM_007294.4(BRCA1):c.5431C>T (p.Gln1811Ter) rs397509283
NM_020975.6(RET):c.1901G>A (p.Cys634Tyr) rs75996173
NM_024675.4(PALB2):c.2748+1G>C rs753153576
NM_032043.3(BRIP1):c.2990_2993del (p.Thr997fs) rs771028677
NM_032444.4(SLX4):c.1163+10C>T rs80116508
NM_032444.4(SLX4):c.426T>A (p.Gly142=) rs377500336

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