ClinVar Miner

Variants from Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C. with conflicting interpretations

Location: United States  Primary collection method: clinical testing
Minimum review status of the submission from Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.: Collection method of the submission from Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:

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
114 543 3 414 305 0 12 695

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 Biomarker Research, Medical Diagnostic Laboratories, L.L.C. pathogenic likely pathogenic uncertain significance likely benign benign
pathogenic 1 7 0 0 0
likely pathogenic 18 2 8 0 0
uncertain significance 2 3 0 223 47
likely benign 0 0 46 0 188
benign 0 0 23 204 0

Submitter to submitter summary #

Total submitters: 53
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
Ambry Genetics 0 559 0 200 198 0 5 402
Color Diagnostics, LLC DBA Color Health 0 498 0 171 107 0 5 283
Sema4, Sema4 0 334 0 150 61 0 4 215
Labcorp Genetics (formerly Invitae), Labcorp 0 158 1 60 38 0 0 99
True Health Diagnostics 0 71 0 80 14 0 1 95
National Health Laboratory Service, Universitas Academic Hospital and University of the Free State 0 31 0 17 7 0 0 24
Molecular Diagnostics Laboratory, Catalan Institute of Oncology 0 37 0 13 10 0 0 23
GeneKor MSA 0 68 0 8 11 0 2 21
Genetics Program, Instituto Nacional de Cancer 0 13 0 18 2 0 0 20
Women's Health and Genetics/Laboratory Corporation of America, LabCorp 0 30 0 19 0 0 0 19
Vantari Genetics 0 15 0 12 2 0 0 14
Laboratorio de I+D, Fundación Centro Médico de Asturias 0 5 0 10 3 0 0 13
University of Washington Department of Laboratory Medicine, University of Washington 0 12 0 2 6 0 1 9
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia 0 4 0 3 4 0 0 7
Fulgent Genetics, Fulgent Genetics 0 11 0 5 1 0 0 6
German Consortium for Hereditary Breast and Ovarian Cancer, University Hospital Cologne 0 2 0 1 4 0 1 6
Department of Clinical Genetics, Copenhagen University Hospital, Rigshospitalet 0 2 2 0 0 0 2 4
Department of Pathology and Laboratory Medicine, Sinai Health System 0 15 0 2 1 0 1 4
Illumina Laboratory Services, Illumina 0 8 0 2 1 0 1 4
Knight Diagnostic Laboratories, Oregon Health and Sciences University 0 3 0 2 1 0 1 4
Mendelics 0 9 0 1 3 0 0 4
Spanish ATM Cancer Susceptibility Variant Interpretation Working Group 0 5 0 3 1 0 0 4
Spanish MMR Variant Interpretation Working Group 0 2 0 3 1 0 0 4
Counsyl 0 7 0 2 1 0 0 3
GeneDx 0 2 0 3 0 0 0 3
Praxis Für Humangenetik, Biosciencia MVZ Labor Saar 0 3 0 1 1 0 1 3
CSER _CC_NCGL, University of Washington 0 0 0 0 2 0 0 2
Cancer Genetics and Genomics Laboratory, British Columbia Cancer Agency 0 0 0 0 2 0 0 2
Cancer Variant Interpretation Group UK, Institute of Cancer Research, London 0 1 0 1 1 0 0 2
Institute for Genomic Medicine (IGM) Clinical Laboratory, Nationwide Children's Hospital 0 5 0 0 0 0 2 2
KCCC/NGS Laboratory, Kuwait Cancer Control Center 0 33 0 1 0 0 1 2
BRCAlab, Lund University 0 0 0 1 0 0 0 1
Breast Cancer Information Core (BIC) (BRCA1) 0 1 0 0 1 0 0 1
Catlab - Consorci Sanitari de Terrassa 0 4 0 1 0 0 0 1
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen 0 1 0 1 0 0 0 1
Diagnostics Centre, Carl Von Ossietzky University Oldenburg 0 0 0 0 0 0 1 1
Dipartimento Di Medicina Di Precisione, Università Degli Studi Della Campania Luigi Vanvitelli 0 0 0 1 0 0 0 1
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 0 0 1 0 0 0 1
GeneID Lab - Advanced Molecular Diagnostics 0 1 0 0 1 0 0 1
Genetics and Molecular Pathology, SA Pathology 0 0 0 1 0 0 0 1
Hereditary Cancer Laboratory, Hospital Universitario 12 de Octubre 0 12 0 1 0 0 0 1
Institute of Human Genetics, University of Leipzig Medical Center 0 3 0 0 0 0 1 1
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine 0 11 0 1 0 0 0 1
Laboratory of Medical Genetics Unit, Bambino Gesù Children's Hospital 0 0 0 0 0 0 1 1
MGZ Medical Genetics Center 0 0 0 0 1 0 0 1
Molecular Oncology Laboratory, Hospital Clínico San Carlos 0 0 0 0 1 0 0 1
Molecular Pathology, Peter Maccallum Cancer Centre 0 0 0 0 1 0 0 1
Myriad Genetics, Inc. 0 5 0 1 0 0 0 1
Neuberg Centre For Genomic Medicine, NCGM 0 0 0 0 0 0 1 1
Research Molecular Genetics Laboratory, Women's College Hospital, University of Toronto 0 14 0 1 0 0 0 1
St. Jude Molecular Pathology, St. Jude Children's Research Hospital 0 2 0 0 1 0 0 1
Unidad de Genética Molecular HGU Elche, Hospital General Universitario de Elche 0 2 0 0 0 0 1 1
Zotz-Klimas Genetics Lab, MVZ Zotz Klimas 0 2 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 695
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HGVS dbSNP gnomAD frequency
NM_002691.4(POLD1):c.463+8G>T rs1726802 0.13968
NM_000051.4(ATM):c.378T>A (p.Asp126Glu) rs2234997 0.06244
NM_002691.4(POLD1):c.1539G>A (p.Leu513=) rs2230246 0.04513
NM_004329.3(BMPR1A):c.435G>A (p.Pro145=) rs11818239 0.04296
NM_002691.4(POLD1):c.1548C>T (p.Ala516=) rs2230247 0.04204
NM_002691.4(POLD1):c.234C>G (p.Arg78=) rs2228665 0.03571
NM_002691.4(POLD1):c.1860G>A (p.Thr620=) rs1726790 0.03334
NM_000051.4(ATM):c.4578C>T (p.Pro1526=) rs1800889 0.03133
NM_000038.6(APC):c.7704A>G (p.Gly2568=) rs35043160 0.02992
NM_002691.4(POLD1):c.518G>A (p.Ser173Asn) rs1726803 0.02952
NM_002691.4(POLD1):c.1173C>T (p.Asp391=) rs2230244 0.02764
NM_006231.4(POLE):c.3379-5T>C rs5744886 0.02649
NM_000051.4(ATM):c.1254A>G (p.Gln418=) rs4987943 0.02542
NM_000535.7(PMS2):c.1532C>T (p.Thr511Met) rs74902811 0.02492
NM_000051.4(ATM):c.8786+8A>C rs4986839 0.02488
NM_006231.4(POLE):c.3126G>A (p.Lys1042=) rs5744856 0.02344
NM_024675.4(PALB2):c.629C>T (p.Pro210Leu) rs57605939 0.02101
NM_006231.4(POLE):c.4290+5C>T rs5744936 0.02053
NM_006231.4(POLE):c.2340G>A (p.Ser780=) rs5744822 0.02051
NM_024675.4(PALB2):c.2993G>A (p.Gly998Glu) rs45551636 0.01717
NM_000546.6(TP53):c.993+12T>C rs1800899 0.01614
NM_004329.3(BMPR1A):c.1140C>T (p.Asp380=) rs35572415 0.01512
NM_024675.4(PALB2):c.1010T>C (p.Leu337Ser) rs45494092 0.01508
NM_007294.4(BRCA1):c.*36C>G rs3092995 0.01385
NM_006231.4(POLE):c.91G>T (p.Ala31Ser) rs34047482 0.01320
NM_004360.5(CDH1):c.1849G>A (p.Ala617Thr) rs33935154 0.01316
NM_000051.4(ATM):c.3118A>G (p.Met1040Val) rs3092857 0.01233
NM_006231.4(POLE):c.2174-8G>A rs117409343 0.01137
NM_000038.6(APC):c.7201C>T (p.Leu2401=) rs2229994 0.01134
NM_000251.3(MSH2):c.2766T>C (p.Phe922=) rs55859129 0.01118
NM_000051.4(ATM):c.4258C>T (p.Leu1420Phe) rs1800058 0.01106
NM_000038.6(APC):c.3732A>G (p.Gln1244=) rs74380081 0.01095
NM_000038.6(APC):c.1695A>G (p.Glu565=) rs77921116 0.01091
NM_002691.4(POLD1):c.849G>T (p.Gln283His) rs113282414 0.01085
NM_001048174.2(MUTYH):c.1517G>A (p.Arg506Gln) rs3219497 0.01036
NM_007294.4(BRCA1):c.212+23T>A rs8176128 0.01018
NM_000535.7(PMS2):c.1557T>C (p.Tyr519=) rs6972869 0.00992
NM_007294.4(BRCA1):c.3418A>G (p.Ser1140Gly) rs2227945 0.00983
NM_002691.4(POLD1):c.1761C>T (p.Ile587=) rs3218755 0.00976
NM_000059.4(BRCA2):c.8487+19A>G rs11571743 0.00975
NM_007294.4(BRCA1):c.2458A>G (p.Lys820Glu) rs56082113 0.00964
NM_000051.4(ATM):c.2572T>C (p.Phe858Leu) rs1800056 0.00861
NM_000535.7(PMS2):c.52A>G (p.Ile18Val) rs63750123 0.00861
NM_024675.4(PALB2):c.925A>G (p.Ile309Val) rs3809683 0.00860
NM_000038.6(APC):c.2608C>T (p.Pro870Ser) rs33974176 0.00858
NM_000546.6(TP53):c.*1175A>C rs78378222 0.00849
NM_006231.4(POLE):c.5804G>A (p.Cys1935Tyr) rs5744991 0.00843
NM_000051.4(ATM):c.8419-19A>G rs12279930 0.00824
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_000051.4(ATM):c.2119T>C (p.Ser707Pro) rs4986761 0.00782
NM_000059.4(BRCA2):c.1788T>C (p.Asp596=) rs11571642 0.00768
NM_000059.4(BRCA2):c.9730G>A (p.Val3244Ile) rs11571831 0.00725
NM_002691.4(POLD1):c.88C>T (p.Arg30Trp) rs3218772 0.00717
NM_000051.4(ATM):c.146C>G (p.Ser49Cys) rs1800054 0.00712
NM_002485.5(NBN):c.1489A>G (p.Thr497Ala) rs3026268 0.00711
NM_000465.4(BARD1):c.1972C>T (p.Arg658Cys) rs3738888 0.00668
NM_000038.6(APC):c.5265G>A (p.Ala1755=) rs34506289 0.00657
NM_000059.4(BRCA2):c.517-19C>T rs11571623 0.00653
NM_058216.3(RAD51C):c.859A>G (p.Thr287Ala) rs28363317 0.00653
NM_000051.4(ATM):c.6235G>A (p.Val2079Ile) rs1800060 0.00649
NM_000051.4(ATM):c.5793T>C (p.Ala1931=) rs3092910 0.00608
NM_000051.4(ATM):c.3383A>G (p.Gln1128Arg) rs2229020 0.00600
NM_001048174.2(MUTYH):c.1347G>C (p.Thr449=) rs74318065 0.00596
NM_000455.5(STK11):c.369G>A (p.Gln123=) rs140112347 0.00584
NM_000038.6(APC):c.3949G>C (p.Glu1317Gln) rs1801166 0.00570
NM_000038.6(APC):c.1959G>A (p.Arg653=) rs72541809 0.00554
NM_024675.4(PALB2):c.53A>G (p.Lys18Arg) rs138789658 0.00530
NM_000038.6(APC):c.1958+8T>C rs62626346 0.00510
NM_000059.4(BRCA2):c.-11C>T rs76874770 0.00504
NM_001048174.2(MUTYH):c.421-4A>G rs201678305 0.00496
NM_000251.3(MSH2):c.984C>T (p.Ala328=) rs4987189 0.00495
NM_000051.4(ATM):c.6088A>G (p.Ile2030Val) rs145847315 0.00477
NM_000251.3(MSH2):c.1666T>C (p.Leu556=) rs61756466 0.00449
NM_024675.4(PALB2):c.2794G>A (p.Val932Met) rs45624036 0.00449
NM_000051.4(ATM):c.5558A>T (p.Asp1853Val) rs1801673 0.00439
NM_000179.3(MSH6):c.457+13A>G rs1800933 0.00434
NM_000051.4(ATM):c.1810C>T (p.Pro604Ser) rs2227922 0.00431
NM_007294.4(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689 0.00419
NM_000059.4(BRCA2):c.6347A>G (p.His2116Arg) rs55953736 0.00396
NM_000249.4(MLH1):c.1852A>G (p.Lys618Glu) rs35001569 0.00387
NM_004360.5(CDH1):c.532-18C>T rs200673941 0.00381
NM_032043.3(BRIP1):c.517C>T (p.Arg173Cys) rs4988345 0.00363
NM_000455.5(STK11):c.1062C>G (p.Phe354Leu) rs59912467 0.00348
NM_001048174.2(MUTYH):c.1103G>A (p.Gly368Asp) rs36053993 0.00341
NM_000038.6(APC):c.7862C>G (p.Ser2621Cys) rs72541816 0.00335
NM_000059.4(BRCA2):c.1275A>G (p.Glu425=) rs34355306 0.00324
NM_024675.4(PALB2):c.1572A>G (p.Ser524=) rs45472400 0.00312
NM_024675.4(PALB2):c.1419A>C (p.Pro473=) rs62625275 0.00309
NM_000038.6(APC):c.3471G>A (p.Glu1157=) rs143927847 0.00308
NM_000249.4(MLH1):c.1963A>G (p.Ile655Val) rs55907433 0.00297
NM_000059.4(BRCA2):c.4068G>A (p.Leu1356=) rs28897724 0.00295
NM_006231.4(POLE):c.16G>C (p.Gly6Arg) rs202220778 0.00291
NM_006231.4(POLE):c.846C>T (p.Pro282=) rs5744758 0.00291
NM_002691.4(POLD1):c.1977C>T (p.Ile659=) rs45605236 0.00290
NM_000059.4(BRCA2):c.5640T>G (p.Asn1880Lys) rs11571657 0.00288
NM_000051.4(ATM):c.3993+5G>T rs3092842 0.00287
NM_000038.6(APC):c.3165A>T (p.Ile1055=) rs61734287 0.00280
NM_000059.4(BRCA2):c.68-7T>A rs81002830 0.00277
NM_002485.5(NBN):c.381T>C (p.Ala127=) rs61754795 0.00277
NM_006231.4(POLE):c.6820C>G (p.Leu2274Val) rs148788180 0.00271
NM_032043.3(BRIP1):c.2097+7G>A rs4988352 0.00271
NM_000038.6(APC):c.4893T>C (p.Ser1631=) rs35634377 0.00268
NM_000059.4(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954 0.00268
NM_013372.7(GREM1):c.103C>G (p.Pro35Ala) rs111262341 0.00259
NM_004360.5(CDH1):c.324A>G (p.Arg108=) rs116542018 0.00255
NM_000179.3(MSH6):c.3911G>A (p.Arg1304Lys) rs34625968 0.00253
NM_000038.6(APC):c.3386T>C (p.Leu1129Ser) rs143638171 0.00250
NM_000059.4(BRCA2):c.6220C>A (p.His2074Asn) rs34309943 0.00247
NM_000051.4(ATM):c.2362A>C (p.Ser788Arg) rs641252 0.00242
NM_007294.4(BRCA1):c.4535G>T (p.Ser1512Ile) rs1800744 0.00240
NM_000059.4(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749 0.00239
NM_000465.4(BARD1):c.1977A>G (p.Arg659=) rs147215925 0.00230
NM_000059.4(BRCA2):c.3516G>A (p.Ser1172=) rs1799952 0.00228
NM_000059.4(BRCA2):c.7626G>A (p.Thr2542=) rs61754138 0.00215
NM_000038.6(APC):c.705A>G (p.Leu235=) rs147036141 0.00213
NM_000251.3(MSH2):c.23C>T (p.Thr8Met) rs17217716 0.00211
NM_007294.4(BRCA1):c.2167A>G (p.Asn723Asp) rs4986845 0.00209
NM_000059.4(BRCA2):c.2927C>T (p.Ser976Phe) rs11571656 0.00208
NM_000455.5(STK11):c.464+9G>A rs376313955 0.00208
NM_002485.5(NBN):c.643C>T (p.Arg215Trp) rs34767364 0.00206
NM_000059.4(BRCA2):c.7150C>A (p.Gln2384Lys) rs55977008 0.00203
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu) rs17883862 0.00201
NM_000051.4(ATM):c.370A>G (p.Ile124Val) rs148590073 0.00198
NM_001042492.3(NF1):c.1994C>T (p.Ser665Phe) rs145891889 0.00197
NM_032043.3(BRIP1):c.584T>C (p.Leu195Pro) rs4988347 0.00197
NM_000059.4(BRCA2):c.2926T>A (p.Ser976Thr) rs144862123 0.00192
NM_001042492.3(NF1):c.7531G>C (p.Val2511Leu) rs2230850 0.00189
NM_002691.4(POLD1):c.378C>T (p.Arg126=) rs145324823 0.00188
NM_032043.3(BRIP1):c.2937A>G (p.Lys979=) rs75091137 0.00187
NM_000051.4(ATM):c.1229T>C (p.Val410Ala) rs56128736 0.00185
NM_000059.4(BRCA2):c.231T>G (p.Thr77=) rs114446594 0.00184
NM_000546.6(TP53):c.782+17C>T rs17880172 0.00184
NM_024675.4(PALB2):c.2256A>G (p.Gly752=) rs147120218 0.00184
NM_007294.4(BRCA1):c.2814A>G (p.Pro938=) rs80356851 0.00183
NM_000535.7(PMS2):c.23+10G>C rs192027828 0.00182
NM_058216.3(RAD51C):c.790G>A (p.Gly264Ser) rs147241704 0.00182
NM_032043.3(BRIP1):c.2286T>C (p.Arg762=) rs61754141 0.00173
NM_001048174.2(MUTYH):c.452A>G (p.Tyr151Cys) rs34612342 0.00168
NM_000051.4(ATM):c.7788+8G>T rs112775908 0.00166
NM_000038.6(APC):c.120G>A (p.Glu40=) rs142720069 0.00161
NM_000251.3(MSH2):c.1277-8T>C rs145400590 0.00159
NM_000059.4(BRCA2):c.4187A>G (p.Gln1396Arg) rs55969723 0.00156
NM_001048174.2(MUTYH):c.1501C>A (p.Leu501Met) rs3219496 0.00153
NM_000251.3(MSH2):c.1387-8G>T rs187525243 0.00152
NM_000059.4(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747 0.00151
NM_007294.4(BRCA1):c.4682C>T (p.Thr1561Ile) rs56158747 0.00150
NM_000465.4(BARD1):c.2282G>A (p.Ser761Asn) rs142155101 0.00149
NM_002691.4(POLD1):c.2628C>T (p.Ile876=) rs75874199 0.00147
NM_000038.6(APC):c.8068G>A (p.Ala2690Thr) rs140868933 0.00146
NM_000059.4(BRCA2):c.3515C>T (p.Ser1172Leu) rs80358600 0.00146
NM_004360.5(CDH1):c.2440-6C>G rs139757930 0.00145
NM_000038.6(APC):c.6921G>A (p.Ser2307=) rs2229993 0.00143
NM_024675.4(PALB2):c.2742C>T (p.Phe914=) rs115759702 0.00143
NM_000059.4(BRCA2):c.2138A>T (p.Gln713Leu) rs55816687 0.00138
NM_000251.3(MSH2):c.1737A>G (p.Lys579=) rs61756467 0.00138
NM_007294.4(BRCA1):c.4113G>A (p.Gly1371=) rs147448807 0.00135
NM_000179.3(MSH6):c.3647-6T>A rs182871847 0.00134
NM_000051.4(ATM):c.2608A>G (p.Asn870Asp) rs61734354 0.00130
NM_000051.4(ATM):c.1066-6T>G rs201686625 0.00128
NM_000059.4(BRCA2):c.6821G>T (p.Gly2274Val) rs55712212 0.00126
NM_000051.4(ATM):c.4473C>T (p.Phe1491=) rs4988008 0.00125
NM_000455.5(STK11):c.598-8C>T rs373610101 0.00123
NM_024675.4(PALB2):c.2816T>G (p.Leu939Trp) rs45478192 0.00121
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_032043.3(BRIP1):c.890A>G (p.Lys297Arg) rs28997570 0.00113
NM_000059.4(BRCA2):c.1040A>G (p.Gln347Arg) rs55800493 0.00109
NM_000059.4(BRCA2):c.1911T>C (p.Gly637=) rs11571652 0.00109
NM_007294.4(BRCA1):c.3083G>A (p.Arg1028His) rs80357459 0.00106
NM_000051.4(ATM):c.4388T>G (p.Phe1463Cys) rs138327406 0.00098
NM_000038.6(APC):c.2262T>G (p.Val754=) rs148987776 0.00096
NM_000051.4(ATM):c.2289T>A (p.Phe763Leu) rs34231402 0.00096
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_000455.5(STK11):c.894C>A (p.Phe298Leu) rs199681533 0.00092
NM_000059.4(BRCA2):c.2883G>A (p.Gln961=) rs11571655 0.00090
NM_000038.6(APC):c.6821C>T (p.Ala2274Val) rs34919187 0.00088
NM_000059.4(BRCA2):c.5768A>C (p.Asp1923Ala) rs45491005 0.00088
NM_001042492.3(NF1):c.3867C>T (p.Phe1289=) rs138186428 0.00088
NM_000535.7(PMS2):c.180C>G (p.Asp60Glu) rs200313585 0.00085
NM_000535.7(PMS2):c.2187C>G (p.Leu729=) rs373630535 0.00083
NM_001042492.3(NF1):c.3468C>T (p.Asn1156=) rs147955381 0.00083
NM_000249.4(MLH1):c.1217G>A (p.Ser406Asn) rs41294980 0.00081
NM_001048174.2(MUTYH):c.1192C>T (p.Arg398Cys) rs150792276 0.00081
NM_000051.4(ATM):c.1073A>G (p.Asn358Ser) rs149636614 0.00079
NM_000051.4(ATM):c.3517T>C (p.Leu1173=) rs141460670 0.00079
NM_000051.4(ATM):c.2096A>G (p.Glu699Gly) rs147934285 0.00078
NM_000249.4(MLH1):c.1151T>A (p.Val384Asp) rs63750447 0.00077
NM_000051.4(ATM):c.6988C>G (p.Leu2330Val) rs148432863 0.00075
NM_002485.5(NBN):c.1354A>C (p.Thr452Pro) rs141137543 0.00075
NM_000059.4(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475 0.00074
NM_000051.4(ATM):c.334G>A (p.Ala112Thr) rs146382972 0.00072
NM_000051.4(ATM):c.7928-10T>C rs188404773 0.00072
NM_000059.4(BRCA2):c.1514T>C (p.Ile505Thr) rs28897708 0.00072
NM_000535.7(PMS2):c.2149G>A (p.Val717Met) rs201671325 0.00072
NM_000038.6(APC):c.1604C>T (p.Ser535Phe) rs75870842 0.00071
NM_000051.4(ATM):c.1744T>C (p.Phe582Leu) rs2235006 0.00071
NM_000059.4(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415 0.00070
NM_007194.4(CHEK2):c.320-5T>A rs121908700 0.00070
NM_000179.3(MSH6):c.1526T>C (p.Val509Ala) rs63751005 0.00067
NM_001042492.3(NF1):c.7595C>T (p.Ala2532Val) rs148154172 0.00066
NM_032043.3(BRIP1):c.3378A>C (p.Glu1126Asp) rs145855459 0.00066
NM_007294.4(BRCA1):c.3024G>A (p.Met1008Ile) rs1800704 0.00065
NM_000455.5(STK11):c.945G>A (p.Pro315=) rs376329042 0.00064
NM_004360.5(CDH1):c.2520C>T (p.Ser840=) rs140328601 0.00064
NM_000179.3(MSH6):c.663A>C (p.Glu221Asp) rs41557217 0.00063
NM_000251.3(MSH2):c.55T>C (p.Phe19Leu) rs141711342 0.00063
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys) rs77130927 0.00063
NM_000051.4(ATM):c.320G>A (p.Cys107Tyr) rs142358238 0.00062
NM_007294.4(BRCA1):c.4992C>T (p.Leu1664=) rs142459158 0.00061
NM_007294.4(BRCA1):c.1487G>A (p.Arg496His) rs28897677 0.00060
NM_000535.7(PMS2):c.86G>C (p.Gly29Ala) rs146176004 0.00059
NM_000179.3(MSH6):c.1869C>T (p.Pro623=) rs141242295 0.00058
NM_000038.6(APC):c.3173A>G (p.Asp1058Gly) rs148725540 0.00057
NM_001042492.3(NF1):c.2033C>T (p.Pro678Leu) rs17881753 0.00057
NM_004360.5(CDH1):c.2439+10C>T rs35236080 0.00057
NM_000179.3(MSH6):c.1508C>G (p.Ser503Cys) rs63750897 0.00056
NM_024675.4(PALB2):c.2851T>C (p.Ser951Pro) rs149522412 0.00056
NM_000059.4(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712 0.00054
NM_000059.4(BRCA2):c.2803G>A (p.Asp935Asn) rs28897716 0.00054
NM_000038.6(APC):c.1240C>T (p.Arg414Cys) rs137854567 0.00053
NM_000051.4(ATM):c.4424A>G (p.Tyr1475Cys) rs34640941 0.00053
NM_000059.4(BRCA2):c.7435+6G>A rs81002852 0.00053
NM_000251.3(MSH2):c.1563T>C (p.Tyr521=) rs63750330 0.00053
NM_001042492.3(NF1):c.7461A>G (p.Thr2487=) rs149924365 0.00052
NM_007294.4(BRCA1):c.5348T>C (p.Met1783Thr) rs55808233 0.00051
NM_000051.4(ATM):c.7313C>T (p.Thr2438Ile) rs147604227 0.00050
NM_000059.4(BRCA2):c.7544C>T (p.Thr2515Ile) rs28897744 0.00048
NM_000179.3(MSH6):c.2667G>T (p.Gln889His) rs149945495 0.00048
NM_000535.7(PMS2):c.1708A>G (p.Asn570Asp) rs115670442 0.00048
NM_032043.3(BRIP1):c.317G>A (p.Arg106His) rs143615668 0.00048
NM_000465.4(BARD1):c.144G>A (p.Leu48=) rs151168457 0.00046
NM_007294.4(BRCA1):c.2566T>C (p.Tyr856His) rs80356892 0.00046
NM_002691.4(POLD1):c.2052G>C (p.Gln684His) rs144143245 0.00045
NM_000051.4(ATM):c.3342G>A (p.Lys1114=) rs138393322 0.00044
NM_000051.4(ATM):c.4709T>C (p.Val1570Ala) rs140856217 0.00043
NM_004360.5(CDH1):c.1138-3C>T rs36103202 0.00042
NM_000038.6(APC):c.2322C>T (p.Asp774=) rs145792879 0.00041
NM_000249.4(MLH1):c.702G>A (p.Glu234=) rs35908749 0.00041
NM_001048174.2(MUTYH):c.1174C>A (p.Leu392Met) rs144079536 0.00041
NM_004360.5(CDH1):c.1239C>T (p.Tyr413=) rs36074916 0.00041
NM_007294.4(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931 0.00038
NM_000249.4(MLH1):c.977T>C (p.Val326Ala) rs63751049 0.00037
NM_001042492.3(NF1):c.369C>G (p.Thr123=) rs146691765 0.00037
NM_000038.6(APC):c.6857C>T (p.Ala2286Val) rs200587641 0.00036
NM_000179.3(MSH6):c.2561A>T (p.Lys854Met) rs34374438 0.00036
NM_001126049.2(KLLN):c.-840G>A rs563841270 0.00036
NM_006231.4(POLE):c.2026+9C>T rs373790607 0.00036
NM_007294.4(BRCA1):c.4484+14A>G rs80358022 0.00036
NM_000051.4(ATM):c.6919C>T (p.Leu2307Phe) rs56009889 0.00035
NM_000455.5(STK11):c.1284G>A (p.Ser428=) rs369097329 0.00035
NM_006231.4(POLE):c.4246G>A (p.Ala1416Thr) rs146711942 0.00034
NM_000038.6(APC):c.607C>G (p.Gln203Glu) rs141576417 0.00033
NM_000179.3(MSH6):c.1867C>G (p.Pro623Ala) rs3136334 0.00033
NM_000251.3(MSH2):c.2154A>G (p.Gln718=) rs63750810 0.00033
NM_000059.4(BRCA2):c.223G>C (p.Ala75Pro) rs28897701 0.00032
NM_000249.4(MLH1):c.1321G>A (p.Ala441Thr) rs63750365 0.00032
NM_000251.3(MSH2):c.815C>T (p.Ala272Val) rs34136999 0.00032
NM_001042492.3(NF1):c.4851A>G (p.Gln1617=) rs150309802 0.00032
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740 0.00032
NM_000051.4(ATM):c.7740A>C (p.Arg2580Ser) rs199915459 0.00031
NM_000251.3(MSH2):c.435T>G (p.Ile145Met) rs63750124 0.00031
NM_007294.4(BRCA1):c.3708T>G (p.Asn1236Lys) rs28897687 0.00031
NM_000059.4(BRCA2):c.10095_10096insT (p.Ser3366Ter) rs730881599 0.00030
NM_032043.3(BRIP1):c.1255C>T (p.Arg419Trp) rs150624408 0.00030
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_000051.4(ATM):c.3014A>G (p.Asn1005Ser) rs146531614 0.00028
NM_000051.4(ATM):c.7004C>T (p.Thr2335Ile) rs3092831 0.00028
NM_000038.6(APC):c.2593C>T (p.Pro865Ser) rs192620988 0.00027
NM_000179.3(MSH6):c.3217C>T (p.Pro1073Ser) rs142254875 0.00027
NM_000455.5(STK11):c.*8C>T rs587782259 0.00027
NM_000465.4(BARD1):c.1491A>G (p.Pro497=) rs61754117 0.00027
NM_000546.6(TP53):c.173C>G (p.Pro58Arg) rs144386518 0.00027
NM_001042492.3(NF1):c.5906A>T (p.Gln1969Leu) rs143502927 0.00027
NM_001042492.3(NF1):c.8499T>C (p.Asn2833=) rs142636150 0.00027
NM_002485.5(NBN):c.1262T>C (p.Leu421Ser) rs104895032 0.00027
NM_007194.4(CHEK2):c.1604G>A (p.Arg535His) rs544216926 0.00027
NM_007294.4(BRCA1):c.736T>G (p.Leu246Val) rs28897675 0.00027
NM_000059.4(BRCA2):c.1395A>C (p.Val465=) rs11571641 0.00026
NM_000059.4(BRCA2):c.6853A>G (p.Ile2285Val) rs56272235 0.00026
NM_000535.7(PMS2):c.1004A>G (p.Asn335Ser) rs200513014 0.00026
NM_004360.5(CDH1):c.2413G>A (p.Asp805Asn) rs200894246 0.00026
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011 0.00026
NM_000051.4(ATM):c.5975A>C (p.Lys1992Thr) rs150757822 0.00025
NM_000535.7(PMS2):c.2324A>G (p.Asn775Ser) rs17420802 0.00025
NM_002691.4(POLD1):c.624G>A (p.Pro208=) rs78996304 0.00025
NM_007294.4(BRCA1):c.3713C>T (p.Pro1238Leu) rs28897688 0.00025
NM_032043.3(BRIP1):c.2440C>T (p.Arg814Cys) rs201869624 0.00025
NM_000038.6(APC):c.7036C>T (p.Pro2346Ser) rs200756935 0.00024
NM_000038.6(APC):c.5274T>A (p.Ser1758=) rs199600387 0.00023
NM_001048174.2(MUTYH):c.737G>A (p.Arg246Gln) rs149866955 0.00023
NM_004360.5(CDH1):c.2412C>T (p.Pro804=) rs202075199 0.00023
NM_007294.4(BRCA1):c.1486C>T (p.Arg496Cys) rs28897676 0.00023
NM_000038.6(APC):c.6526T>C (p.Leu2176=) rs183468041 0.00022
NM_000059.4(BRCA2):c.467A>G (p.Asp156Gly) rs68071147 0.00022
NM_000059.4(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755 0.00022
NM_000251.3(MSH2):c.1787A>G (p.Asn596Ser) rs41295288 0.00022
NM_004360.5(CDH1):c.2589C>T (p.Asn863=) rs115817750 0.00022
NM_000038.6(APC):c.3352A>G (p.Asn1118Asp) rs140493115 0.00021
NM_000059.4(BRCA2):c.1123C>T (p.Pro375Ser) rs80358408 0.00021
NM_000059.4(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755 0.00021
NM_000249.4(MLH1):c.2101C>A (p.Gln701Lys) rs63750114 0.00021
NM_007294.4(BRCA1):c.2477C>A (p.Thr826Lys) rs28897683 0.00021
NM_032043.3(BRIP1):c.852C>T (p.Val284=) rs144940449 0.00021
NM_000059.4(BRCA2):c.5710C>G (p.Leu1904Val) rs55875643 0.00020
NM_000465.4(BARD1):c.308G>A (p.Ser103Asn) rs145629242 0.00020
NM_001048174.2(MUTYH):c.1034C>T (p.Ala345Val) rs35352891 0.00020
NM_024675.4(PALB2):c.298C>T (p.Leu100Phe) rs61756147 0.00020
NM_000051.4(ATM):c.7475T>G (p.Leu2492Arg) rs56399857 0.00019
NM_000051.4(ATM):c.8734A>G (p.Arg2912Gly) rs376676328 0.00019
NM_000179.3(MSH6):c.4001+11_4001+15dup rs587779302 0.00019
NM_000535.7(PMS2):c.953A>G (p.Tyr318Cys) rs139438201 0.00019
NM_000546.6(TP53):c.1079G>C (p.Gly360Ala) rs35993958 0.00019
NM_007294.4(BRCA1):c.1789G>A (p.Glu597Lys) rs55650082 0.00019
NM_000038.6(APC):c.4237A>G (p.Met1413Val) rs141519952 0.00018
NM_000038.6(APC):c.5009C>T (p.Ala1670Val) rs202228932 0.00018
NM_000051.4(ATM):c.4768C>T (p.Leu1590Phe) rs35962982 0.00018
NM_000455.5(STK11):c.618G>A (p.Ala206=) rs370976710 0.00018
NM_000535.7(PMS2):c.137G>T (p.Ser46Ile) rs121434629 0.00018
NM_000546.6(TP53):c.935C>G (p.Thr312Ser) rs145151284 0.00018
NM_001042492.3(NF1):c.4749A>G (p.Glu1583=) rs144091165 0.00018
NM_000051.4(ATM):c.1009C>T (p.Arg337Cys) rs138398778 0.00017
NM_000051.4(ATM):c.4060C>A (p.Pro1354Thr) rs145119475 0.00017
NM_000051.4(ATM):c.7187C>G (p.Thr2396Ser) rs370559102 0.00017
NM_000059.4(BRCA2):c.10203G>A (p.Thr3401=) rs147854265 0.00017
NM_000535.7(PMS2):c.2012C>T (p.Thr671Met) rs587780046 0.00017
NM_001042492.3(NF1):c.1032A>G (p.Leu344=) rs199832006 0.00017
NM_001042492.3(NF1):c.6172A>G (p.Ile2058Val) rs201712827 0.00017
NM_024675.4(PALB2):c.2135C>T (p.Ala712Val) rs141458731 0.00017
NM_000038.6(APC):c.6669A>G (p.Ser2223=) rs372680843 0.00016
NM_000051.4(ATM):c.7381C>T (p.Arg2461Cys) rs201314561 0.00016
NM_000059.4(BRCA2):c.3417G>A (p.Lys1139=) rs145625991 0.00016
NM_000314.8(PTEN):c.234C>T (p.Thr78=) rs35917308 0.00016
NM_001042492.3(NF1):c.3672G>A (p.Ala1224=) rs151293900 0.00016
NM_007294.4(BRCA1):c.4410A>T (p.Glu1470Asp) rs80357075 0.00016
NM_000038.6(APC):c.2586C>G (p.Asn862Lys) rs147972247 0.00015
NM_000038.6(APC):c.6985A>G (p.Ile2329Val) rs146048493 0.00015
NM_001042492.3(NF1):c.107C>G (p.Thr36Ser) rs199966218 0.00015
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342 0.00015
NM_007294.4(BRCA1):c.3748G>A (p.Glu1250Lys) rs28897686 0.00015
NM_000059.4(BRCA2):c.4061C>T (p.Thr1354Met) rs80358656 0.00014
NM_000465.4(BARD1):c.279A>G (p.Gln93=) rs370000575 0.00014
NM_007194.4(CHEK2):c.-4C>T rs374938148 0.00014
NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser) rs587780179 0.00014
NM_007294.4(BRCA1):c.3302G>A (p.Ser1101Asn) rs41293447 0.00014
NM_000038.6(APC):c.6609T>C (p.Val2203=) rs149328018 0.00013
NM_000059.4(BRCA2):c.5414A>G (p.Asn1805Ser) rs80358765 0.00013
NM_000465.4(BARD1):c.659T>C (p.Leu220Ser) rs138593305 0.00013
NM_000535.7(PMS2):c.1864A>G (p.Met622Val) rs370853512 0.00013
NM_001042492.3(NF1):c.7026G>A (p.Leu2342=) rs371581213 0.00013
NM_002485.5(NBN):c.1124+6G>T rs375862750 0.00013
NM_007194.4(CHEK2):c.7C>T (p.Arg3Trp) rs199708878 0.00013
NM_000059.4(BRCA2):c.3055C>G (p.Leu1019Val) rs55638633 0.00012
NM_000249.4(MLH1):c.1050A>G (p.Pro350=) rs137937003 0.00012
NM_000455.5(STK11):c.825G>A (p.Pro275=) rs202011521 0.00012
NM_000535.7(PMS2):c.1279C>T (p.Arg427Cys) rs376042544 0.00012
NM_007294.4(BRCA1):c.2315T>C (p.Val772Ala) rs80357467 0.00012
NM_000038.6(APC):c.277C>G (p.Leu93Val) rs201567345 0.00011
NM_000038.6(APC):c.3875C>T (p.Thr1292Met) rs371113837 0.00011
NM_000051.4(ATM):c.5185G>C (p.Val1729Leu) rs3092907 0.00011
NM_000051.4(ATM):c.7919C>T (p.Thr2640Ile) rs4988125 0.00011
NM_000179.3(MSH6):c.628-7C>A rs373129248 0.00011
NM_000535.7(PMS2):c.1689A>G (p.Arg563=) rs551226281 0.00011
NM_001042492.3(NF1):c.1599C>G (p.Val533=) rs369458366 0.00011
NM_001042492.3(NF1):c.2178G>C (p.Val726=) rs369590240 0.00011
NM_001048174.2(MUTYH):c.849+3A>C rs587780751 0.00011
NM_002485.5(NBN):c.505C>T (p.Arg169Cys) rs182756889 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_024675.4(PALB2):c.1250C>A (p.Ser417Tyr) rs45510998 0.00011
NM_000038.6(APC):c.3786T>C (p.Tyr1262=) rs147411334 0.00010
NM_000038.6(APC):c.388A>G (p.Ser130Gly) rs150973053 0.00010
NM_000051.4(ATM):c.1727T>C (p.Ile576Thr) rs730881342 0.00010
NM_000051.4(ATM):c.6343G>A (p.Val2115Ile) rs587780634 0.00010
NM_000179.3(MSH6):c.1875C>T (p.Ser625=) rs63749886 0.00010
NM_000179.3(MSH6):c.335A>G (p.Asn112Ser) rs587779934 0.00010
NM_000251.3(MSH2):c.128A>G (p.Tyr43Cys) rs17217723 0.00010
NM_000314.8(PTEN):c.579G>A (p.Leu193=) rs568851024 0.00010
NM_001048174.2(MUTYH):c.1171G>A (p.Ala391Thr) rs587780744 0.00010
NM_024675.4(PALB2):c.2474G>C (p.Arg825Thr) rs146218439 0.00010
NM_000051.4(ATM):c.4167A>G (p.Thr1389=) rs183214437 0.00009
NM_000051.4(ATM):c.5005+7_5005+8del rs587780626 0.00009
NM_000059.4(BRCA2):c.4614T>C (p.Ser1538=) rs45520945 0.00009
NM_000059.4(BRCA2):c.5455C>T (p.Pro1819Ser) rs80358768 0.00009
NM_000059.4(BRCA2):c.6338A>G (p.Asn2113Ser) rs80358874 0.00009
NM_000059.4(BRCA2):c.9875C>T (p.Pro3292Leu) rs56121817 0.00009
NM_000179.3(MSH6):c.3727A>T (p.Thr1243Ser) rs147453999 0.00009
NM_000179.3(MSH6):c.660A>C (p.Glu220Asp) rs1800938 0.00009
NM_000251.3(MSH2):c.382C>G (p.Leu128Val) rs145649774 0.00009
NM_000455.5(STK11):c.735-9G>A rs201899557 0.00009
NM_000455.5(STK11):c.787T>C (p.Leu263=) rs372378119 0.00009
NM_000465.4(BARD1):c.1694G>A (p.Arg565His) rs146946984 0.00009
NM_000546.6(TP53):c.847C>T (p.Arg283Cys) rs149633775 0.00009
NM_001048174.2(MUTYH):c.650G>A (p.Arg217His) rs140342925 0.00009
NM_004360.5(CDH1):c.1409C>T (p.Thr470Ile) rs370864592 0.00009
NM_058216.3(RAD51C):c.506T>C (p.Val169Ala) rs587780256 0.00009
NM_000038.6(APC):c.5026A>G (p.Arg1676Gly) rs370560998 0.00008
NM_000038.6(APC):c.573T>C (p.Tyr191=) rs185154886 0.00008
NM_000051.4(ATM):c.6503C>T (p.Ser2168Leu) rs200431631 0.00008
NM_000051.4(ATM):c.7778A>G (p.Gln2593Arg) rs587779867 0.00008
NM_000051.4(ATM):c.8391T>C (p.Ser2797=) rs566485657 0.00008
NM_000059.4(BRCA2):c.517-4C>G rs81002804 0.00008
NM_000249.4(MLH1):c.1808C>G (p.Pro603Arg) rs63750876 0.00008
NM_000535.7(PMS2):c.1399G>A (p.Val467Ile) rs373611083 0.00008
NM_001042492.3(NF1):c.5757G>A (p.Glu1919=) rs141077224 0.00008
NM_001048174.2(MUTYH):c.929A>G (p.Gln310Arg) rs199742231 0.00008
NM_004360.5(CDH1):c.894C>T (p.Ala298=) rs139110184 0.00008
NM_007194.4(CHEK2):c.*7T>C rs121908710 0.00008
NM_000038.6(APC):c.7399C>A (p.Pro2467Thr) rs372305287 0.00007
NM_000051.4(ATM):c.496+4T>C rs587781375 0.00007
NM_000059.4(BRCA2):c.3568C>T (p.Arg1190Trp) rs80358604 0.00007
NM_000059.4(BRCA2):c.6935A>T (p.Asp2312Val) rs80358916 0.00007
NM_000059.4(BRCA2):c.987G>A (p.Arg329=) rs561002197 0.00007
NM_000179.3(MSH6):c.1054G>A (p.Val352Ile) rs730881787 0.00007
NM_000179.3(MSH6):c.2384T>C (p.Ile795Thr) rs202127474 0.00007
NM_000251.3(MSH2):c.4G>A (p.Ala2Thr) rs63750466 0.00007
NM_000455.5(STK11):c.1127A>C (p.Glu376Ala) rs373888280 0.00007
NM_000535.7(PMS2):c.1490G>A (p.Gly497Asp) rs199739859 0.00007
NM_000546.6(TP53):c.248C>T (p.Ala83Val) rs201717599 0.00007
NM_000546.6(TP53):c.903A>G (p.Pro301=) rs72661120 0.00007
NM_001042492.3(NF1):c.1528-10T>C rs376174484 0.00007
NM_001042492.3(NF1):c.4836-3T>C rs372460369 0.00007
NM_001042492.3(NF1):c.8105A>T (p.Tyr2702Phe) rs201824349 0.00007
NM_007194.4(CHEK2):c.1421G>A (p.Arg474His) rs121908706 0.00007
NM_007194.4(CHEK2):c.539G>A (p.Arg180His) rs137853009 0.00007
NM_007294.4(BRCA1):c.1865C>T (p.Ala622Val) rs56039126 0.00007
NM_007294.4(BRCA1):c.4882A>G (p.Met1628Val) rs80357465 0.00007
NM_000038.6(APC):c.4478C>T (p.Thr1493Met) rs374892194 0.00006
NM_000051.4(ATM):c.198A>G (p.Lys66=) rs540920248 0.00006
NM_000051.4(ATM):c.2804C>T (p.Thr935Met) rs3218708 0.00006
NM_000051.4(ATM):c.610G>A (p.Gly204Arg) rs147915571 0.00006
NM_000059.4(BRCA2):c.2320A>G (p.Thr774Ala) rs55968715 0.00006
NM_000059.4(BRCA2):c.2957A>G (p.Asn986Ser) rs28897718 0.00006
NM_000179.3(MSH6):c.1050C>T (p.Ala350=) rs730881802 0.00006
NM_000179.3(MSH6):c.3478G>A (p.Val1160Ile) rs376799914 0.00006
NM_000179.3(MSH6):c.3762A>T (p.Glu1254Asp) rs375459388 0.00006
NM_000249.4(MLH1):c.2174G>A (p.Arg725His) rs566928243 0.00006
NM_000465.4(BARD1):c.1793C>A (p.Thr598Asn) rs376256852 0.00006
NM_000465.4(BARD1):c.716T>A (p.Leu239Gln) rs200359745 0.00006
NM_000535.7(PMS2):c.475G>A (p.Val159Met) rs142416537 0.00006
NM_000535.7(PMS2):c.944G>A (p.Arg315Gln) rs116314131 0.00006
NM_001042492.3(NF1):c.4526G>A (p.Arg1509His) rs546073780 0.00006
NM_004360.5(CDH1):c.1174G>A (p.Val392Ile) rs141864044 0.00006
NM_004360.5(CDH1):c.1298A>G (p.Asp433Gly) rs376097289 0.00006
NM_007194.4(CHEK2):c.1556G>T (p.Arg519Leu) rs587780180 0.00006
NM_007294.4(BRCA1):c.1724A>G (p.Glu575Gly) rs111539978 0.00006
NM_007294.4(BRCA1):c.3640G>A (p.Glu1214Lys) rs80356923 0.00006
NM_024675.4(PALB2):c.1001A>G (p.Tyr334Cys) rs200620434 0.00006
NM_032043.3(BRIP1):c.3103C>T (p.Arg1035Cys) rs45437094 0.00006
NM_032043.3(BRIP1):c.689C>T (p.Ser230Leu) rs759031349 0.00006
NM_000038.6(APC):c.385G>C (p.Glu129Gln) rs376628500 0.00005
NM_000051.4(ATM):c.3689A>G (p.Asn1230Ser) rs587782195 0.00005
NM_000059.4(BRCA2):c.8010G>A (p.Ser2670=) rs146430937 0.00005
NM_000059.4(BRCA2):c.8092G>A (p.Ala2698Thr) rs80359052 0.00005
NM_000059.4(BRCA2):c.8807T>C (p.Leu2936Ser) rs398122714 0.00005
NM_000179.3(MSH6):c.147C>T (p.Ala49=) rs768803986 0.00005
NM_000179.3(MSH6):c.2562G>T (p.Lys854Asn) rs759048538 0.00005
NM_000249.4(MLH1):c.80G>A (p.Arg27Gln) rs138705565 0.00005
NM_000465.4(BARD1):c.1568T>C (p.Val523Ala) rs587780017 0.00005
NM_004360.5(CDH1):c.1224G>A (p.Ala408=) rs200161607 0.00005
NM_004360.5(CDH1):c.2387G>A (p.Arg796Gln) rs587782549 0.00005
NM_000038.6(APC):c.4073C>T (p.Ala1358Val) rs730881249 0.00004
NM_000038.6(APC):c.5528C>T (p.Pro1843Leu) rs368080169 0.00004
NM_000038.6(APC):c.6387G>A (p.Ser2129=) rs374310157 0.00004
NM_000038.6(APC):c.8261G>A (p.Ser2754Asn) rs369721828 0.00004
NM_000051.4(ATM):c.1888G>A (p.Val630Met) rs148191382 0.00004
NM_000051.4(ATM):c.8968G>A (p.Glu2990Lys) rs1800558 0.00004
NM_000059.4(BRCA2):c.136C>T (p.Pro46Ser) rs80358425 0.00004
NM_000059.4(BRCA2):c.1762A>G (p.Asn588Asp) rs398122731 0.00004
NM_000059.4(BRCA2):c.352C>T (p.Arg118Cys) rs375125172 0.00004
NM_000059.4(BRCA2):c.8420C>T (p.Ser2807Leu) rs55763607 0.00004
NM_000059.4(BRCA2):c.8723T>G (p.Val2908Gly) rs28897753 0.00004
NM_000179.3(MSH6):c.107C>T (p.Ala36Val) rs61756469 0.00004
NM_000249.4(MLH1):c.1270G>A (p.Ala424Thr) rs377433038 0.00004
NM_000249.4(MLH1):c.794G>A (p.Arg265His) rs63751448 0.00004
NM_000455.5(STK11):c.795G>A (p.Glu265=) rs730881963 0.00004
NM_000465.4(BARD1):c.353A>G (p.Asn118Ser) rs142864491 0.00004
NM_000535.7(PMS2):c.166C>G (p.Leu56Val) rs371011390 0.00004
NM_000535.7(PMS2):c.2356C>A (p.Leu786Met) rs576055272 0.00004
NM_007294.4(BRCA1):c.75C>T (p.Pro25=) rs80356839 0.00004
NM_024675.4(PALB2):c.1699C>T (p.His567Tyr) rs370422990 0.00004
NM_024675.4(PALB2):c.2289G>C (p.Leu763Phe) rs373478248 0.00004
NM_032043.3(BRIP1):c.1045G>C (p.Ala349Pro) rs149364097 0.00004
NM_032043.3(BRIP1):c.751C>T (p.Arg251Cys) rs752309409 0.00004
NM_032043.3(BRIP1):c.778A>G (p.Thr260Ala) rs138743097 0.00004
NM_000038.6(APC):c.7415C>T (p.Ala2472Val) rs200399245 0.00003
NM_000051.4(ATM):c.649A>G (p.Ile217Val) rs547045780 0.00003
NM_000051.4(ATM):c.7618G>A (p.Val2540Ile) rs35203200 0.00003
NM_000059.4(BRCA2):c.3581G>A (p.Gly1194Asp) rs28897721 0.00003
NM_000059.4(BRCA2):c.6293C>T (p.Ser2098Phe) rs80358867 0.00003
NM_000059.4(BRCA2):c.750G>A (p.Val250=) rs143214959 0.00003
NM_000059.4(BRCA2):c.9235del (p.Val3079fs) rs397507422 0.00003
NM_000059.4(BRCA2):c.9586A>G (p.Lys3196Glu) rs80359228 0.00003
NM_000179.3(MSH6):c.-8C>T rs565211544 0.00003
NM_000179.3(MSH6):c.1049C>T (p.Ala350Val) rs587782331 0.00003
NM_000179.3(MSH6):c.1696G>A (p.Gly566Arg) rs63749973 0.00003
NM_000249.4(MLH1):c.1514G>A (p.Ser505Asn) rs771044689 0.00003
NM_000249.4(MLH1):c.1976G>A (p.Arg659Gln) rs63749900 0.00003
NM_000249.4(MLH1):c.2252A>G (p.Lys751Arg) rs140195825 0.00003
NM_000251.3(MSH2):c.2205C>T (p.Ile735=) rs533553381 0.00003
NM_000455.5(STK11):c.613G>A (p.Ala205Thr) rs730881981 0.00003
NM_000465.4(BARD1):c.1028C>T (p.Thr343Ile) rs201032007 0.00003
NM_000535.7(PMS2):c.1096G>C (p.Asp366His) rs141769057 0.00003
NM_001042492.3(NF1):c.134A>G (p.Asn45Ser) rs753189381 0.00003
NM_001042492.3(NF1):c.6428-3C>T rs374014162 0.00003
NM_001048174.2(MUTYH):c.14G>A (p.Arg5Gln) rs587780081 0.00003
NM_001126049.2(KLLN):c.-806A>C rs587782761 0.00003
NM_002878.4(RAD51D):c.620C>T (p.Ser207Leu) rs370228071 0.00003
NM_004360.5(CDH1):c.2017C>A (p.Gln673Lys) rs587781701 0.00003
NM_007194.4(CHEK2):c.1526C>T (p.Pro509Leu) rs587782541 0.00003
NM_007294.4(BRCA1):c.1881C>G (p.Val627=) rs80356838 0.00003
NM_007294.4(BRCA1):c.3362A>G (p.Asn1121Ser) rs80356919 0.00003
NM_007294.4(BRCA1):c.396C>A (p.Asn132Lys) rs80357413 0.00003
NM_007294.4(BRCA1):c.5175A>G (p.Glu1725=) rs191373374 0.00003
NM_007294.4(BRCA1):c.594-2A>C rs80358033 0.00003
NM_007294.4(BRCA1):c.641A>G (p.Asp214Gly) rs55680408 0.00003
NM_024675.4(PALB2):c.3296C>G (p.Thr1099Arg) rs142132127 0.00003
NM_024675.4(PALB2):c.94C>G (p.Leu32Val) rs151316635 0.00003
NM_032043.3(BRIP1):c.1619A>T (p.Gln540Leu) rs4988349 0.00003
NM_032043.3(BRIP1):c.2830C>G (p.Gln944Glu) rs140233356 0.00003
NM_058216.3(RAD51C):c.7G>A (p.Gly3Arg) rs376403182 0.00003
NM_000038.6(APC):c.6588A>C (p.Lys2196Asn) rs961108427 0.00002
NM_000038.6(APC):c.7821C>T (p.Ser2607=) rs532235331 0.00002
NM_000038.6(APC):c.8141G>A (p.Arg2714His) rs747362422 0.00002
NM_000051.4(ATM):c.1855A>C (p.Asn619His) rs140882609 0.00002
NM_000059.4(BRCA2):c.1564G>C (p.Gly522Arg) rs80358442 0.00002
NM_000059.4(BRCA2):c.179A>G (p.Asn60Ser) rs80358463 0.00002
NM_000059.4(BRCA2):c.2484T>C (p.Tyr828=) rs45619134 0.00002
NM_000059.4(BRCA2):c.3835A>G (p.Asn1279Asp) rs80358626 0.00002
NM_000059.4(BRCA2):c.7534C>T (p.Leu2512Phe) rs80358980 0.00002
NM_000059.4(BRCA2):c.8386C>T (p.Pro2796Ser) rs146120136 0.00002
NM_000251.3(MSH2):c.1182T>G (p.Phe394Leu) rs374135434 0.00002
NM_000251.3(MSH2):c.368C>G (p.Ala123Gly) rs730881767 0.00002
NM_001042492.3(NF1):c.1620G>T (p.Glu540Asp) rs766748586 0.00002
NM_001042492.3(NF1):c.3871-4G>C rs558421445 0.00002
NM_001048174.2(MUTYH):c.1172C>A (p.Ala391Asp) rs369299948 0.00002
NM_001126049.2(KLLN):c.-845C>T rs587782068 0.00002
NM_002485.5(NBN):c.1903A>T (p.Lys635Ter) rs587782545 0.00002
NM_002485.5(NBN):c.2029G>A (p.Asp677Asn) rs730881856 0.00002
NM_004360.5(CDH1):c.344C>T (p.Thr115Met) rs370973869 0.00002
NM_007294.4(BRCA1):c.2662C>T (p.His888Tyr) rs80357480 0.00002
NM_032043.3(BRIP1):c.3571A>G (p.Ile1191Val) rs761405340 0.00002
NM_000038.6(APC):c.3415A>C (p.Lys1139Gln) rs201550951 0.00001
NM_000038.6(APC):c.4534G>A (p.Asp1512Asn) rs778699501 0.00001
NM_000038.6(APC):c.5224C>T (p.Arg1742Cys) rs876658835 0.00001
NM_000038.6(APC):c.5918G>A (p.Ser1973Asn) rs4987109 0.00001
NM_000038.6(APC):c.6887G>A (p.Ser2296Asn) rs919611781 0.00001
NM_000038.6(APC):c.7573C>T (p.Arg2525Cys) rs774952444 0.00001
NM_000051.4(ATM):c.1444A>C (p.Lys482Gln) rs202173660 0.00001
NM_000051.4(ATM):c.1748A>G (p.Tyr583Cys) rs587780614 0.00001
NM_000051.4(ATM):c.2492A>G (p.Asp831Gly) rs587781352 0.00001
NM_000051.4(ATM):c.2638+3A>G rs876660552 0.00001
NM_000051.4(ATM):c.2968A>G (p.Ile990Val) rs899241025 0.00001
NM_000051.4(ATM):c.4612-4T>G rs569983068 0.00001
NM_000051.4(ATM):c.5410A>T (p.Ile1804Phe) rs769872474 0.00001
NM_000051.4(ATM):c.6974C>T (p.Ala2325Val) rs200940211 0.00001
NM_000051.4(ATM):c.8393C>A (p.Ala2798Asp) rs772992098 0.00001
NM_000051.4(ATM):c.8850+4A>C rs587782335 0.00001
NM_000051.4(ATM):c.8965C>G (p.Gln2989Glu) rs147695170 0.00001
NM_000051.4(ATM):c.9166G>T (p.Val3056Leu) rs371767164 0.00001
NM_000059.4(BRCA2):c.2524G>C (p.Val842Leu) rs587782454 0.00001
NM_000059.4(BRCA2):c.2698A>G (p.Asn900Asp) rs55736268 0.00001
NM_000059.4(BRCA2):c.4037del (p.Thr1346fs) rs1162394508 0.00001
NM_000059.4(BRCA2):c.4039_4043del (p.Val1347fs) rs1370021869 0.00001
NM_000059.4(BRCA2):c.4741G>A (p.Glu1581Lys) rs368952892 0.00001
NM_000059.4(BRCA2):c.599C>T (p.Thr200Ile) rs587781402 0.00001
NM_000059.4(BRCA2):c.6665A>G (p.Tyr2222Cys) rs397507875 0.00001
NM_000059.4(BRCA2):c.6698C>A (p.Ala2233Asp) rs41293501 0.00001
NM_000059.4(BRCA2):c.8866G>C (p.Glu2956Gln) rs142040996 0.00001
NM_000059.4(BRCA2):c.8867A>C (p.Glu2956Ala) rs151174152 0.00001
NM_000059.4(BRCA2):c.9118-6C>A rs81002890 0.00001
NM_000059.4(BRCA2):c.9509A>G (p.Asp3170Gly) rs80359224 0.00001
NM_000059.4(BRCA2):c.9672dup (p.Tyr3225fs) rs80359773 0.00001
NM_000179.3(MSH6):c.998C>T (p.Thr333Ile) rs587781983 0.00001
NM_000251.3(MSH2):c.10C>A (p.Gln4Lys) rs878853797 0.00001
NM_000251.3(MSH2):c.1221C>G (p.Leu407=) rs63750813 0.00001
NM_000251.3(MSH2):c.2579C>T (p.Ser860Leu) rs63750849 0.00001
NM_000251.3(MSH2):c.2595C>T (p.Ile865=) rs547695133 0.00001
NM_000251.3(MSH2):c.439G>A (p.Val147Ile) rs773125415 0.00001
NM_000455.5(STK11):c.1249G>T (p.Ala417Ser) rs587782876 0.00001
NM_000535.7(PMS2):c.1753C>A (p.Leu585Ile) rs63750947 0.00001
NM_000535.7(PMS2):c.1760G>A (p.Ser587Asn) rs762100304 0.00001
NM_000535.7(PMS2):c.230A>C (p.Glu77Ala) rs777095030 0.00001
NM_000546.6(TP53):c.145G>A (p.Asp49Asn) rs587780728 0.00001
NM_000546.6(TP53):c.974G>T (p.Gly325Val) rs121912659 0.00001
NM_001042492.3(NF1):c.7841A>G (p.Lys2614Arg) rs587781502 0.00001
NM_001048174.2(MUTYH):c.1088A>G (p.Gln363Arg) rs984795084 0.00001
NM_001048174.2(MUTYH):c.1409A>G (p.Gln470Arg) rs587780085 0.00001
NM_001048174.2(MUTYH):c.634G>A (p.Ala212Thr) rs774237159 0.00001
NM_001128425.2(MUTYH):c.38C>T (p.Ala13Val) rs587780747 0.00001
NM_002485.5(NBN):c.1397+3C>G rs876660481 0.00001
NM_002485.5(NBN):c.1465C>G (p.Leu489Val) rs143948240 0.00001
NM_002485.5(NBN):c.171+4T>C rs587782290 0.00001
NM_004360.5(CDH1):c.1250A>G (p.Asn417Ser) rs773441320 0.00001
NM_004360.5(CDH1):c.1351A>C (p.Ile451Leu) rs377416092 0.00001
NM_004360.5(CDH1):c.2380G>A (p.Val794Ile) rs587782466 0.00001
NM_004360.5(CDH1):c.781G>A (p.Glu261Lys) rs121964873 0.00001
NM_006231.4(POLE):c.5795G>A (p.Arg1932His) rs778190944 0.00001
NM_007194.4(CHEK2):c.1180G>A (p.Glu394Lys) rs587780169 0.00001
NM_007194.4(CHEK2):c.1452G>A (p.Pro484=) rs749156425 0.00001
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg) rs72552322 0.00001
NM_007294.4(BRCA1):c.1397G>A (p.Arg466Gln) rs199540030 0.00001
NM_007294.4(BRCA1):c.1772T>C (p.Ile591Thr) rs80356859 0.00001
NM_007294.4(BRCA1):c.4204C>T (p.His1402Tyr) rs80357365 0.00001
NM_007294.4(BRCA1):c.5096G>A (p.Arg1699Gln) rs41293459 0.00001
NM_007294.4(BRCA1):c.5207T>C (p.Val1736Ala) rs45553935 0.00001
NM_024675.4(PALB2):c.3549C>G (p.Tyr1183Ter) rs118203998 0.00001
NM_024675.4(PALB2):c.734C>T (p.Ala245Val) rs571063157 0.00001
NM_024675.4(PALB2):c.833T>A (p.Leu278Gln) rs200843485 0.00001
NM_024675.4(PALB2):c.880A>G (p.Lys294Glu) rs753676934 0.00001
NM_032043.3(BRIP1):c.2706A>G (p.Ile902Met) rs587780244 0.00001
NM_032043.3(BRIP1):c.3262C>T (p.His1088Tyr) rs878855154 0.00001
NM_032043.3(BRIP1):c.338C>T (p.Thr113Ile) rs778480809 0.00001
NM_032043.3(BRIP1):c.380-7A>G rs748143260 0.00001
NM_058216.3(RAD51C):c.934C>T (p.Arg312Trp) rs730881932 0.00001
NM_000038.6(APC):c.1338C>A (p.Ile446=) rs759703047
NM_000038.6(APC):c.3462AGA[2] (p.Glu1157del) rs386833391
NM_000038.6(APC):c.5421CAA[1] (p.Asn1808del) rs587782002
NM_000038.6(APC):c.777G>T (p.Arg259=) rs147704593
NM_000051.4(ATM):c.1020C>A (p.Ala340=) rs546927781
NM_000051.4(ATM):c.1380G>C (p.Thr460=) rs145333518
NM_000051.4(ATM):c.2805G>C (p.Thr935=) rs55934812
NM_000051.4(ATM):c.4447A>T (p.Ile1483Phe) rs1281685502
NM_000051.4(ATM):c.5496+2_5496+5del rs1565479572
NM_000051.4(ATM):c.7638_7646del (p.Arg2547_Ser2549del) rs587776547
NM_000051.4(ATM):c.8959G>T (p.Asp2987Tyr) rs863224582
NM_000059.4(BRCA2):c.1460C>A (p.Ala487Glu) rs56390402
NM_000059.4(BRCA2):c.2044A>T (p.Ile682Phe) rs398122738
NM_000059.4(BRCA2):c.4090A>C (p.Ile1364Leu) rs56248502
NM_000059.4(BRCA2):c.5126A>G (p.Asp1709Gly) rs786202836
NM_000059.4(BRCA2):c.627C>A (p.Leu209=) rs28897704
NM_000059.4(BRCA2):c.6737C>G (p.Pro2246Arg) rs587782038
NM_000059.4(BRCA2):c.68-7del rs276174878
NM_000059.4(BRCA2):c.7435+10G>A rs81002793
NM_000059.4(BRCA2):c.7772A>G (p.Asn2591Ser) rs80359006
NM_000059.4(BRCA2):c.8825C>T (p.Ala2942Val) rs373227180
NM_000059.4(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_000059.4(BRCA2):c.9116C>T (p.Pro3039Leu) rs80359167
NM_000179.3(MSH6):c.3151G>A (p.Val1051Ile) rs576269342
NM_000179.3(MSH6):c.3246G>T (p.Pro1082=) rs3136351
NM_000179.3(MSH6):c.3259C>T (p.Pro1087Ser) rs63750998
NM_000179.3(MSH6):c.4001+2TAAC[2] rs267608132
NM_000179.3(MSH6):c.4001+2TAAC[4] rs267608132
NM_000179.3(MSH6):c.4068_4071dup (p.Lys1358delinsAspTer) rs55740729
NM_000179.3(MSH6):c.508C>T (p.Pro170Ser) rs878853748
NM_000249.4(MLH1):c.1853A>C (p.Lys618Thr) rs63750449
NM_000251.3(MSH2):c.2005+8dup rs267607992
NM_000251.3(MSH2):c.2321T>C (p.Ile774Thr) rs878853811
NM_000251.3(MSH2):c.2380A>C (p.Ile794Leu) rs1553369778
NM_000251.3(MSH2):c.2380A>G (p.Ile794Val) rs1553369778
NM_000251.3(MSH2):c.2634+4T>C rs1553370486
NM_000251.3(MSH2):c.2714C>T (p.Thr905Ile) rs267608022
NM_000251.3(MSH2):c.273TCT[2] (p.Leu94del) rs267607919
NM_000251.3(MSH2):c.67T>C (p.Phe23Leu) rs372619120
NM_000251.3(MSH2):c.942+21_942+29del rs11309117
NM_000251.3(MSH2):c.942+22_942+29del rs11309117
NM_000251.3(MSH2):c.964G>A (p.Gly322Ser) rs773301485
NM_000465.4(BARD1):c.1070T>C (p.Ile357Thr) rs587781555
NM_000465.4(BARD1):c.215+5_215+8del rs876658777
NM_000465.4(BARD1):c.2191C>G (p.Arg731Gly) rs76744638
NM_000535.7(PMS2):c.1454C>T (p.Thr485Met) rs1805323
NM_000535.7(PMS2):c.1688G>A (p.Arg563Gln) rs63750668
NM_000535.7(PMS2):c.1771T>C (p.Cys591Arg) rs764252217
NM_000535.7(PMS2):c.2186_2187del (p.Leu729fs) rs587779335
NM_000535.7(PMS2):c.830C>A (p.Thr277Lys) rs1805322
NM_000546.6(TP53):c.31G>C (p.Glu11Gln) rs201382018
NM_001042492.3(NF1):c.2512A>G (p.Ile838Val) rs1555614212
NM_001042492.3(NF1):c.7781G>T (p.Arg2594Leu) rs774781617
NM_001048174.2(MUTYH):c.1350GGA[1] (p.Glu452del) rs587778541
NM_001048174.2(MUTYH):c.228C>T (p.Tyr76=) rs121908380
NM_001048174.2(MUTYH):c.652G>T (p.Val218Phe) rs587780749
NM_002485.5(NBN):c.266G>A (p.Arg89Gln) rs747315554
NM_002485.5(NBN):c.758C>T (p.Thr253Ile) rs61754967
NM_002691.4(POLD1):c.324G>T (p.Ala108=) rs20582
NM_004360.5(CDH1):c.1565+2_1565+3insTT rs1555516200
NM_004360.5(CDH1):c.409G>C (p.Ala137Pro) rs876658797
NM_007194.4(CHEK2):c.1260-6del rs878854912
NM_007194.4(CHEK2):c.1263del (p.Ser422fs) rs587780174
NM_007194.4(CHEK2):c.231CCAAGAACCTGAGGA[1] (p.77DQEPE[1]) rs587780181
NM_007294.4(BRCA1):c.1843TCT[1] (p.Ser616del) rs80358329
NM_007294.4(BRCA1):c.2338C>G (p.Gln780Glu) rs80356945
NM_007294.4(BRCA1):c.3600G>C (p.Gln1200His) rs56214134
NM_007294.4(BRCA1):c.4096+3A>G rs80358015
NM_007294.4(BRCA1):c.4327C>G (p.Arg1443Gly) rs41293455
NM_007294.4(BRCA1):c.5198A>G (p.Asp1733Gly) rs80357270
NM_024675.4(PALB2):c.1217C>T (p.Ala406Val) rs1060502757
NM_024675.4(PALB2):c.1685-5T>G
NM_024675.4(PALB2):c.233T>C (p.Val78Ala) rs1313634930
NM_032043.3(BRIP1):c.2884A>G (p.Ile962Val) rs1603276520
NM_032043.3(BRIP1):c.370A>G (p.Thr124Ala) rs45617634
NM_032043.3(BRIP1):c.533C>T (p.Thr178Ile) rs876658780

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