ClinVar Miner

Variants from Department of Pathology and Laboratory Medicine,Sinai Health System with conflicting interpretations

Location: Canada — Primary collection method: clinical testing
Minimum review status of the submission from Department of Pathology and Laboratory Medicine,Sinai Health System: Collection method of the submission from Department of Pathology and Laboratory Medicine,Sinai Health System:
Minimum review status of the other submission: Collection method of the other submission:
Minimum conflict level:
ClinVar version:

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

Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
328 648 80 563 459 14 91 858

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
Department of Pathology and Laboratory Medicine,Sinai Health System pathogenic likely pathogenic uncertain significance likely benign benign risk factor other
pathogenic 5 102 32 2 1 3 1
likely pathogenic 39 1 19 0 0 0 0
uncertain significance 15 23 11 157 81 1 0
likely benign 3 1 153 0 154 1 0
benign 3 2 141 268 63 0 8

Submitter to submitter summary #

Total submitters: 75
Download table as spreadsheet
Submitter Variants with only 1 submission Variants with at least 2 submissions and no conflicts Variants with a synonymous conflict
(e.g. benign vs non-pathogenic)
Variants with a confidence conflict
(e.g. benign vs likely benign)
Variants with a benign or likely benign vs uncertain conflict Variants with a category conflict
(e.g. benign vs affects)
Variants with a clinically significant conflict
(e.g. benign vs pathogenic)
Variants with any kind of conflict
Color 0 619 0 166 136 0 9 311
Invitae 0 771 0 142 108 1 19 270
Ambry Genetics 0 768 0 129 106 0 23 258
GeneDx 0 633 0 112 93 1 14 220
Counsyl 0 327 0 137 49 0 8 194
Integrated Genetics/Laboratory Corporation of America 0 456 0 71 84 0 5 160
Illumina Clinical Services Laboratory,Illumina 0 53 0 136 15 0 1 152
Sharing Clinical Reports Project (SCRP) 0 300 0 48 67 0 5 120
Breast Cancer Information Core (BIC) (BRCA2) 0 216 0 3 102 0 11 116
PreventionGenetics 0 284 0 85 14 0 1 100
International Society for Gastrointestinal Hereditary Tumours (InSiGHT) 0 127 38 40 8 0 14 100
Biesecker Lab/Human Development Section,National Institutes of Health 0 5 48 15 33 0 1 97
Breast Cancer Information Core (BIC) (BRCA1) 0 146 0 3 83 0 10 96
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic 0 177 0 68 17 0 5 90
True Health Diagnostics 0 55 0 76 11 1 0 88
Quest Diagnostics Nichols Institute San Juan Capistrano 0 310 0 55 30 0 2 87
Evidence-based Network for the Interpretation of Germline Mutant Alleles (ENIGMA) 0 417 0 69 13 0 3 85
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine 0 126 0 31 38 0 0 69
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories 0 272 0 46 12 0 0 58
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics 0 200 0 39 17 0 0 56
Genetic Services Laboratory, University of Chicago 0 31 0 46 8 0 0 54
Institute for Biomarker Research,Medical Diagnostic Laboratories, L.L.C. 0 20 0 45 6 0 0 51
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario 0 81 0 35 6 0 2 43
CSER_CC_NCGL; University of Washington Medical Center 0 26 0 23 20 0 0 43
Genome Diagnostics Laboratory,University Medical Center Utrecht 0 87 0 32 5 0 0 37
Fulgent Genetics 0 68 0 32 3 0 2 37
DNA and Cytogenetics Diagnostics Unit,Erasmus Medical Center 0 151 0 31 5 0 0 36
Pathway Genomics 0 66 0 28 5 0 2 35
Michigan Medical Genetics Laboratories,University of Michigan 0 130 0 23 6 0 0 29
Mendelics 0 79 0 13 12 0 3 28
Division of Genomic Diagnostics,The Children's Hospital of Philadelphia 0 21 0 13 13 0 1 27
Research Molecular Genetics Laboratory,Women's College Hospital, University of Toronto 0 199 0 13 4 0 3 20
CeGaT Praxis fuer Humangenetik Tuebingen 0 6 0 18 1 0 0 19
Diagnostic Laboratory, Department of Genetics,University Medical Center Groningen 0 132 0 14 5 0 0 19
Foulkes Cancer Genetics LDI,Lady Davis Institute for Medical Research 0 107 0 1 14 0 3 18
Consortium of Investigators of Modifiers of BRCA1/2 (CIMBA), c/o University of Cambridge 0 236 0 17 0 0 1 18
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics 0 9 0 13 4 0 0 17
Vantari Genetics 0 18 0 13 4 0 0 17
OMIM 0 53 0 4 3 5 3 15
Baylor Miraca Genetics Laboratories, 0 77 0 13 0 0 0 13
Center for Human Genetics, Inc 0 13 0 4 8 0 1 13
GeneKor MSA 0 94 0 7 2 1 1 11
Genome Diagnostics Laboratory,VU University Medical Center Amsterdam 0 19 0 9 2 0 0 11
University of Washington Department of Laboratory Medicine,University of Washington 0 33 0 2 5 1 3 11
A.C.Camargo Cancer Center / LGBM, A.C.Camargo Cancer Center 0 23 0 1 8 0 1 10
GeneReviews 0 7 5 0 0 0 4 9
Systems Biology Platform Zhejiang California International NanoSystems Institute 0 0 0 0 0 9 0 9
Cancer Genetics and Genomics Laboratory,British Columbia Cancer Agency 0 72 0 4 5 0 0 9
Genomic Research Center,Shahid Beheshti University of Medical Sciences 0 9 0 1 4 0 1 6
Department of Medical Genetics,University Hospital of North Norway 0 8 0 4 2 0 0 6
Department of Pathology and Molecular Medicine,Queen's University 0 47 0 4 2 0 0 6
Athena Diagnostics Inc 0 38 0 5 0 0 0 5
Department of Medical Genetics,Oslo University Hospital 0 47 0 3 0 0 2 5
Laboratory of Molecular Diagnosis of Cancer,West China Hospital, Sichuan University 0 10 0 0 5 0 0 5
Human Genome Sequencing Center Clinical Lab,Baylor College of Medicine 0 31 0 3 0 1 0 4
Centre for Mendelian Genomics,University Medical Centre Ljubljana 0 6 0 1 1 0 2 4
3DMed Clinical Laboratory Inc 0 13 0 1 3 0 0 4
Database of Curated Mutations (DoCM) 0 0 0 2 0 0 1 3
Institute for Genomic Medicine (IGM) Clinical Laboratory,Nationwide Children's Hospital 0 1 0 3 0 0 0 3
Knight Diagnostic Laboratories,Oregon Health and Sciences University 0 2 0 1 1 0 0 2
Clinical Molecular and Personalized Diagnostics,Institute of Biochemistry and Clinical Biochemistry, Teaching and Research Hospital Agostino Gemelli Foundation 0 0 0 1 0 0 1 2
Snyder Lab, Genetics Department,Stanford University 0 1 0 1 0 1 0 2
Cancer Variant Interpretation Group UK,Institute of Cancer Research, London 0 1 0 0 0 0 2 2
Institute of Human Genetics,Klinikum rechts der Isar 0 0 0 0 0 0 1 1
Genetic Predisposition to Colorectal Cancer Group,Institut d’Investigacions Biomediques August Pi i Sunyer 0 0 0 0 0 0 1 1
Next Generation Diagnostics,Novartis Institutes for BioMedical Research, Inc. 0 0 0 0 1 0 0 1
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center 0 4 0 0 1 0 0 1
MVZ Praenatalmedizin und Genetik Nuernberg 0 1 0 1 0 0 0 1
Endocrine oncology group,Uppsala University 0 0 0 1 0 0 0 1
SIB Swiss Institute of Bioinformatics 0 3 0 1 0 0 0 1
National Molecular Genetics Centre of Cancer Research,N.N. Alexandrov National Cancer Centre of Belarus 0 1 0 0 0 0 1 1
Cancer Diagnostics Division,Gene Solutions 0 0 0 1 0 0 0 1
Gharavi Laboratory,Columbia University 0 6 0 0 0 0 1 1
German Consortium for Hereditary Breast and Ovarian Cancer Center Cologne,University Hospital Cologne 0 23 0 1 0 0 0 1
Center for Reproductive Medicine,Shandong Provincial Hospital Affiliated to Shandong University 0 0 0 0 0 0 1 1

All variants with conflicting interpretations #

Total variants: 858
Download table as spreadsheet
HGVS dbSNP
NC_000002.12:g.(?_47482779)_(47482949_?)del
NM_000038.5(APC):c.1005A>G (p.Leu335=) rs3797704
NM_000038.5(APC):c.1121G>A (p.Arg374Gln) rs141582813
NM_000038.5(APC):c.1312+3A>G rs863225311
NM_000038.5(APC):c.1440A>C (p.Gln480His) rs863224537
NM_000038.5(APC):c.1458T>C (p.Tyr486=) rs2229992
NM_000038.5(APC):c.1554G>A (p.Thr518=) rs546568052
NM_000038.5(APC):c.1631T>C (p.Ile544Thr) rs144056494
NM_000038.5(APC):c.1635G>A (p.Ala545=) rs351771
NM_000038.5(APC):c.1695A>G (p.Glu565=) rs77921116
NM_000038.5(APC):c.1713A>G (p.Ala571=) rs529306174
NM_000038.5(APC):c.1744-2A>G rs587783035
NM_000038.5(APC):c.1825G>A (p.Val609Ile) rs147863331
NM_000038.5(APC):c.1866C>A (p.Tyr622Ter) rs876658355
NM_000038.5(APC):c.190G>T (p.Gly64Ter) rs79323615
NM_000038.5(APC):c.1956C>T (p.His652=) rs1064793716
NM_000038.5(APC):c.1958+8T>C rs62626346
NM_000038.5(APC):c.1959-2A>G rs876658214
NM_000038.5(APC):c.1959G>A (p.Arg653=) rs72541809
NM_000038.5(APC):c.2105G>A (p.Gly702Glu) rs876658289
NM_000038.5(APC):c.220+2T>A rs587781809
NM_000038.5(APC):c.2205G>A (p.Ala735=) rs141001261
NM_000038.5(APC):c.220G>T (p.Glu74Ter) rs876658941
NM_000038.5(APC):c.2322C>T (p.Asp774=) rs145792879
NM_000038.5(APC):c.2608C>T (p.Pro870Ser) rs33974176
NM_000038.5(APC):c.2626C>T (p.Arg876Ter) rs121913333
NM_000038.5(APC):c.2805C>T (p.Tyr935=) rs137854575
NM_000038.5(APC):c.288T>A (p.Tyr96Ter) rs376213437
NM_000038.5(APC):c.295C>T (p.Arg99Trp) rs139196838
NM_000038.5(APC):c.3077A>C (p.Asn1026Thr) rs1114167603
NM_000038.5(APC):c.3165A>T (p.Ile1055=) rs61734287
NM_000038.5(APC):c.3249T>G (p.Asp1083Glu) rs201629780
NM_000038.5(APC):c.3340C>T (p.Arg1114Ter) rs121913331
NM_000038.5(APC):c.3378C>G (p.Ser1126Arg) rs149353082
NM_000038.5(APC):c.3386T>C (p.Leu1129Ser) rs143638171
NM_000038.5(APC):c.3471G>A (p.Glu1157=) rs143927847
NM_000038.5(APC):c.3632T>G (p.Met1211Arg) rs575268622
NM_000038.5(APC):c.3732A>G (p.Gln1244=) rs74380081
NM_000038.5(APC):c.3920T>A (p.Ile1307Lys) rs1801155
NM_000038.5(APC):c.3920_3924delTAAAA (p.Ile1307Argfs) rs1064794229
NM_000038.5(APC):c.3927_3931delAAAGA (p.Glu1309Aspfs) rs121913224
NM_000038.5(APC):c.3949G>C (p.Glu1317Gln) rs1801166
NM_000038.5(APC):c.423-3T>A rs587782293
NM_000038.5(APC):c.423-4delA rs730881230
NM_000038.5(APC):c.4326T>A (p.Pro1442=) rs67622085
NM_000038.5(APC):c.4336G>A (p.Ala1446Thr) rs146572883
NM_000038.5(APC):c.4479G>A (p.Thr1493=) rs41115
NM_000038.5(APC):c.450A>G (p.Lys150=) rs116020626
NM_000038.5(APC):c.4666dup (p.Thr1556Asnfs) rs587783031
NM_000038.5(APC):c.5009C>T (p.Ala1670Val) rs202228932
NM_000038.5(APC):c.5026A>G (p.Arg1676Gly) rs370560998
NM_000038.5(APC):c.5034G>A (p.Gly1678=) rs42427
NM_000038.5(APC):c.5250C>G (p.Val1750=) rs2229997
NM_000038.5(APC):c.5268T>G (p.Ser1756=) rs866006
NM_000038.5(APC):c.5274T>A (p.Ser1758=) rs199600387
NM_000038.5(APC):c.532-14_532-12delATT rs765893314
NM_000038.5(APC):c.532-8G>A rs1060503323
NM_000038.5(APC):c.5880G>A (p.Pro1960=) rs465899
NM_000038.5(APC):c.6135C>T (p.Ser2045=) rs187297940
NM_000038.5(APC):c.6363_6365dupTGC (p.Ala2122_Cys2123insAla) rs587780602
NM_000038.5(APC):c.6724A>G (p.Ser2242Gly) rs201375478
NM_000038.5(APC):c.6821C>T (p.Ala2274Val) rs34919187
NM_000038.5(APC):c.6857C>T (p.Ala2286Val) rs200587641
NM_000038.5(APC):c.6873A>T (p.Gln2291His) rs148878262
NM_000038.5(APC):c.6921G>A (p.Ser2307=) rs2229993
NM_000038.5(APC):c.705A>G (p.Leu235=) rs147036141
NM_000038.5(APC):c.70C>T (p.Arg24Ter) rs145945630
NM_000038.5(APC):c.7201C>T (p.Leu2401=) rs2229994
NM_000038.5(APC):c.7399C>A (p.Pro2467Thr) rs372305287
NM_000038.5(APC):c.7504G>A (p.Gly2502Ser) rs2229995
NM_000038.5(APC):c.7514G>A (p.Arg2505Gln) rs147549623
NM_000038.5(APC):c.7621A>G (p.Ile2541Val) rs587778033
NM_000038.5(APC):c.7704A>G (p.Gly2568=) rs35043160
NM_000038.5(APC):c.777G>T (p.Arg259=) rs147704593
NM_000038.5(APC):c.7862C>G (p.Ser2621Cys) rs72541816
NM_000038.5(APC):c.8068G>A (p.Ala2690Thr) rs140868933
NM_000038.5(APC):c.8325G>A (p.Gly2775=) rs770719841
NM_000038.5(APC):c.8416C>G (p.Pro2806Ala) rs587780608
NM_000038.5(APC):c.937_938delGA (p.Glu313Asnfs) rs387906239
NM_000038.6(APC):c.5465T>A (p.Val1822Asp) rs459552
NM_000059.3(BRCA2):c.-11C>T rs76874770
NM_000059.3(BRCA2):c.-15A>C rs138705202
NM_000059.3(BRCA2):c.-39-12_-39-10delTCT rs276174798
NM_000059.3(BRCA2):c.10089A>G (p.Ile3363Met) rs80358390
NM_000059.3(BRCA2):c.10110G>A (p.Arg3370=) rs28897762
NM_000059.3(BRCA2):c.10111A>G (p.Thr3371Ala) rs80358393
NM_000059.3(BRCA2):c.1011C>T (p.Asn337=) rs41293473
NM_000059.3(BRCA2):c.10121C>T (p.Thr3374Ile) rs56309455
NM_000059.3(BRCA2):c.10154G>A (p.Arg3385His) rs80358398
NM_000059.3(BRCA2):c.10220A>G (p.Asn3407Ser) rs80358401
NM_000059.3(BRCA2):c.10222A>T (p.Lys3408Ter) rs80358402
NM_000059.3(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426
NM_000059.3(BRCA2):c.1040A>G (p.Gln347Arg) rs55800493
NM_000059.3(BRCA2):c.1144A>C (p.Lys382Gln) rs371454630
NM_000059.3(BRCA2):c.1151C>T (p.Ser384Phe) rs41293475
NM_000059.3(BRCA2):c.1166C>A (p.Pro389Gln) rs397507263
NM_000059.3(BRCA2):c.125A>G (p.Tyr42Cys) rs4987046
NM_000059.3(BRCA2):c.1275A>G (p.Glu425=) rs34355306
NM_000059.3(BRCA2):c.1362A>G (p.Lys454=) rs55919657
NM_000059.3(BRCA2):c.1368_1369dupGA (p.Lys457Argfs) rs397507583
NM_000059.3(BRCA2):c.1385A>G (p.Glu462Gly) rs56403624
NM_000059.3(BRCA2):c.1395A>C (p.Val465=) rs11571641
NM_000059.3(BRCA2):c.1409A>C (p.Glu470Ala) rs750341436
NM_000059.3(BRCA2):c.145G>T (p.Glu49Ter) rs80358435
NM_000059.3(BRCA2):c.1460C>A (p.Ala487Glu) rs56390402
NM_000059.3(BRCA2):c.1478C>T (p.Pro493Leu) rs786202916
NM_000059.3(BRCA2):c.1514T>C (p.Ile505Thr) rs28897708
NM_000059.3(BRCA2):c.1564G>C (p.Gly522Arg) rs80358442
NM_000059.3(BRCA2):c.1568A>G (p.His523Arg) rs80358443
NM_000059.3(BRCA2):c.1627C>A (p.His543Asn) rs80358446
NM_000059.3(BRCA2):c.1644G>A (p.Gln548=) rs55986646
NM_000059.3(BRCA2):c.1662T>G (p.Cys554Trp) rs80358451
NM_000059.3(BRCA2):c.1744A>C (p.Thr582Pro) rs80358457
NM_000059.3(BRCA2):c.1786G>C (p.Asp596His) rs56328701
NM_000059.3(BRCA2):c.1788T>C (p.Asp596=) rs11571642
NM_000059.3(BRCA2):c.1792A>G (p.Thr598Ala) rs28897710
NM_000059.3(BRCA2):c.1798T>C (p.Tyr600His) rs75419644
NM_000059.3(BRCA2):c.1810A>G (p.Lys604Glu) rs80358467
NM_000059.3(BRCA2):c.1818G>A (p.Pro606=) rs76844014
NM_000059.3(BRCA2):c.1875T>A (p.Phe625Leu) rs80358478
NM_000059.3(BRCA2):c.1889C>T (p.Thr630Ile) rs80358479
NM_000059.3(BRCA2):c.1909+1G>A rs587781629
NM_000059.3(BRCA2):c.1909+22dupT rs276174816
NM_000059.3(BRCA2):c.1909+9_1909+10delGT rs527732001
NM_000059.3(BRCA2):c.1911T>C (p.Gly637=) rs11571652
NM_000059.3(BRCA2):c.1938C>T (p.Ser646=) rs28897711
NM_000059.3(BRCA2):c.1964C>G (p.Pro655Arg) rs28897712
NM_000059.3(BRCA2):c.198A>G (p.Gln66=) rs28897700
NM_000059.3(BRCA2):c.2004G>A (p.Arg668=) rs755049218
NM_000059.3(BRCA2):c.2127G>C (p.Leu709=) rs554040246
NM_000059.3(BRCA2):c.2138A>T (p.Gln713Leu) rs55816687
NM_000059.3(BRCA2):c.2208A>G (p.Ala736=) rs144984153
NM_000059.3(BRCA2):c.2233A>G (p.Lys745Glu) rs374691587
NM_000059.3(BRCA2):c.223G>C (p.Ala75Pro) rs28897701
NM_000059.3(BRCA2):c.2256C>T (p.Asp752=) rs766384913
NM_000059.3(BRCA2):c.231T>G (p.Thr77=) rs114446594
NM_000059.3(BRCA2):c.2320A>G (p.Thr774Ala) rs55968715
NM_000059.3(BRCA2):c.2330A>G (p.Asp777Gly) rs780489283
NM_000059.3(BRCA2):c.2350A>G (p.Met784Val) rs11571653
NM_000059.3(BRCA2):c.235A>G (p.Ile79Val) rs80358502
NM_000059.3(BRCA2):c.2398_2423dup (p.Leu809Valfs) rs1555282658
NM_000059.3(BRCA2):c.2412A>G (p.Glu804=) rs587780866
NM_000059.3(BRCA2):c.2538A>C (p.Ser846=) rs11571654
NM_000059.3(BRCA2):c.2550A>G (p.Gln850=) rs80359785
NM_000059.3(BRCA2):c.2593G>T (p.Glu865Ter) rs587782014
NM_000059.3(BRCA2):c.267G>A (p.Pro89=) rs587780648
NM_000059.3(BRCA2):c.2680G>A (p.Val894Ile) rs28897715
NM_000059.3(BRCA2):c.2716A>G (p.Thr906Ala) rs80358528
NM_000059.3(BRCA2):c.2748delT (p.Cys916Trpfs) rs886040443
NM_000059.3(BRCA2):c.2751A>G (p.Val917=) rs765644162
NM_000059.3(BRCA2):c.2786T>C (p.Leu929Ser) rs2227943
NM_000059.3(BRCA2):c.2786delT (p.Leu929Tyrfs) rs80359347
NM_000059.3(BRCA2):c.2803G>A (p.Asp935Asn) rs28897716
NM_000059.3(BRCA2):c.280C>T (p.Pro94Ser) rs80358531
NM_000059.3(BRCA2):c.2817C>T (p.Thr939=) rs367921107
NM_000059.3(BRCA2):c.2860_2862delGAG (p.Glu954del) rs80359360
NM_000059.3(BRCA2):c.2870delA (p.Asn957Ilefs) rs397507645
NM_000059.3(BRCA2):c.2875G>A (p.Val959Ile) rs1555282921
NM_000059.3(BRCA2):c.2883G>A (p.Gln961=) rs11571655
NM_000059.3(BRCA2):c.2926_2927delTCinsAT (p.Ser976Ile) rs276174831
NM_000059.3(BRCA2):c.2944A>C (p.Ile982Leu) rs28897717
NM_000059.3(BRCA2):c.2960A>T (p.Asn987Ile) rs2227944
NM_000059.3(BRCA2):c.2999T>C (p.Ile1000Thr) rs374769365
NM_000059.3(BRCA2):c.3055C>G (p.Leu1019Val) rs55638633
NM_000059.3(BRCA2):c.3073A>G (p.Lys1025Glu) rs80358550
NM_000059.3(BRCA2):c.316+108A>G rs115376548
NM_000059.3(BRCA2):c.317-15A>G rs1555280835
NM_000059.3(BRCA2):c.3264T>C (p.Pro1088=) rs36060526
NM_000059.3(BRCA2):c.3309A>G (p.Leu1103=) rs786203980
NM_000059.3(BRCA2):c.3328G>T (p.Glu1110Ter) rs1555283173
NM_000059.3(BRCA2):c.3417G>A (p.Lys1139=) rs145625991
NM_000059.3(BRCA2):c.3420T>C (p.Ser1140=) rs118093942
NM_000059.3(BRCA2):c.3445A>G (p.Met1149Val) rs80358589
NM_000059.3(BRCA2):c.3515C>T (p.Ser1172Leu) rs80358600
NM_000059.3(BRCA2):c.3516G>A (p.Ser1172=) rs1799952
NM_000059.3(BRCA2):c.3545_3546delTT (p.Phe1182Terfs) rs80359388
NM_000059.3(BRCA2):c.3581G>A (p.Gly1194Asp) rs28897721
NM_000059.3(BRCA2):c.3717A>G (p.Lys1239=) rs141196976
NM_000059.3(BRCA2):c.3814A>G (p.Met1272Val) rs80358624
NM_000059.3(BRCA2):c.3858_3860delAAA (p.Lys1286del) rs80359406
NM_000059.3(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485
NM_000059.3(BRCA2):c.3910A>G (p.Thr1304Ala) rs28897723
NM_000059.3(BRCA2):c.4007_4008insCATC (p.Asp1337Ilefs) rs878853577
NM_000059.3(BRCA2):c.4061C>T (p.Thr1354Met) rs80358656
NM_000059.3(BRCA2):c.4068G>A (p.Leu1356=) rs28897724
NM_000059.3(BRCA2):c.4071A>C (p.Leu1357=) rs140556653
NM_000059.3(BRCA2):c.4090A>C (p.Ile1364Leu) rs56248502
NM_000059.3(BRCA2):c.4146_4148delAGA (p.Glu1382del) rs80359432
NM_000059.3(BRCA2):c.4187A>G (p.Gln1396Arg) rs55969723
NM_000059.3(BRCA2):c.4241C>T (p.Thr1414Met) rs70953664
NM_000059.3(BRCA2):c.425+33A>G rs200065709
NM_000059.3(BRCA2):c.425+67A>C rs11571610
NM_000059.3(BRCA2):c.4258G>T (p.Asp1420Tyr) rs28897727
NM_000059.3(BRCA2):c.426-37T>A rs81002859
NM_000059.3(BRCA2):c.426-89T>C rs3783265
NM_000059.3(BRCA2):c.4269T>C (p.Thr1423=) rs786201377
NM_000059.3(BRCA2):c.4284dupT (p.Gln1429Serfs) rs80359439
NM_000059.3(BRCA2):c.4299G>A (p.Gly1433=) rs1555283699
NM_000059.3(BRCA2):c.4314C>T (p.Val1438=) rs730881590
NM_000059.3(BRCA2):c.4405_4409delGACAT (p.Asp1469Lysfs) rs397507331
NM_000059.3(BRCA2):c.440A>G (p.Gln147Arg) rs80358674
NM_000059.3(BRCA2):c.4535G>A (p.Arg1512His) rs80358685
NM_000059.3(BRCA2):c.4552delG (p.Glu1518Asnfs) rs398122783
NM_000059.3(BRCA2):c.4578A>G (p.Thr1526=) rs202022822
NM_000059.3(BRCA2):c.4584C>T (p.Ser1528=) rs80359788
NM_000059.3(BRCA2):c.4585G>A (p.Gly1529Arg) rs28897728
NM_000059.3(BRCA2):c.4599A>C (p.Lys1533Asn) rs80358694
NM_000059.3(BRCA2):c.4614T>C (p.Ser1538=) rs45520945
NM_000059.3(BRCA2):c.4656T>C (p.Gly1552=) rs41293491
NM_000059.3(BRCA2):c.4670C>G (p.Thr1557Ser) rs80358698
NM_000059.3(BRCA2):c.4686A>G (p.Gln1562=) rs28897730
NM_000059.3(BRCA2):c.469_470delAA (p.Lys157Valfs) rs397507739
NM_000059.3(BRCA2):c.4779A>C (p.Glu1593Asp) rs80358703
NM_000059.3(BRCA2):c.4828G>A (p.Val1610Met) rs80358705
NM_000059.3(BRCA2):c.4928T>C (p.Val1643Ala) rs28897731
NM_000059.3(BRCA2):c.506A>G (p.Lys169Arg) rs80358730
NM_000059.3(BRCA2):c.5070A>C (p.Lys1690Asn) rs56087561
NM_000059.3(BRCA2):c.5095G>A (p.Asp1699Asn) rs80358731
NM_000059.3(BRCA2):c.5159C>A (p.Ser1720Ter) rs80358740
NM_000059.3(BRCA2):c.516+14C>T rs182828913
NM_000059.3(BRCA2):c.517-19C>T rs11571623
NM_000059.3(BRCA2):c.517-2A>G rs81002858
NM_000059.3(BRCA2):c.5171T>C (p.Ile1724Thr) rs80358743
NM_000059.3(BRCA2):c.517G>C (p.Gly173Arg) rs397507768
NM_000059.3(BRCA2):c.5198C>T (p.Ser1733Phe) rs55639415
NM_000059.3(BRCA2):c.5199C>T (p.Ser1733=) rs28897734
NM_000059.3(BRCA2):c.5278T>G (p.Ser1760Ala) rs28897735
NM_000059.3(BRCA2):c.5312G>A (p.Gly1771Asp) rs80358755
NM_000059.3(BRCA2):c.5319G>A (p.Glu1773=) rs376257217
NM_000059.3(BRCA2):c.5418A>G (p.Glu1806=) rs34351119
NM_000059.3(BRCA2):c.5428G>A (p.Val1810Ile) rs80358766
NM_000059.3(BRCA2):c.5455C>T (p.Pro1819Ser) rs80358768
NM_000059.3(BRCA2):c.5495C>A (p.Ser1832Tyr) rs138489917
NM_000059.3(BRCA2):c.5634C>G (p.Asn1878Lys) rs80358784
NM_000059.3(BRCA2):c.5640T>G (p.Asn1880Lys) rs11571657
NM_000059.3(BRCA2):c.5649A>C (p.Lys1883Asn) rs80358787
NM_000059.3(BRCA2):c.5652T>C (p.Ile1884=) rs766067138
NM_000059.3(BRCA2):c.5683G>A (p.Glu1895Lys) rs146351301
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) rs4987048
NM_000059.3(BRCA2):c.5710C>G (p.Leu1904Val) rs55875643
NM_000059.3(BRCA2):c.5729A>T (p.Asn1910Ile) rs276174863
NM_000059.3(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117
NM_000059.3(BRCA2):c.5745G>A (p.Thr1915=) rs1799953
NM_000059.3(BRCA2):c.5748T>G (p.His1916Gln) rs1555284387
NM_000059.3(BRCA2):c.5752C>T (p.His1918Tyr) rs80358803
NM_000059.3(BRCA2):c.5753A>G (p.His1918Arg) rs80358804
NM_000059.3(BRCA2):c.5768A>C (p.Asp1923Ala) rs45491005
NM_000059.3(BRCA2):c.5785A>G (p.Ile1929Val) rs79538375
NM_000059.3(BRCA2):c.5813G>C (p.Gly1938Ala) rs41293499
NM_000059.3(BRCA2):c.5836T>C (p.Ser1946Pro) rs80358811
NM_000059.3(BRCA2):c.5851_5854delAGTT (p.Ser1951Trpfs) rs80359543
NM_000059.3(BRCA2):c.5862_5863delTT (p.Ser1955Argfs) rs786202700
NM_000059.3(BRCA2):c.5864C>A (p.Ser1955Ter) rs80358815
NM_000059.3(BRCA2):c.5880T>C (p.Cys1960=) rs368055906
NM_000059.3(BRCA2):c.5946delT (p.Ser1982Argfs) rs80359550
NM_000059.3(BRCA2):c.5985C>T (p.Asn1995=) rs374620036
NM_000059.3(BRCA2):c.6057C>T (p.Asn2019=) rs147961615
NM_000059.3(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954
NM_000059.3(BRCA2):c.6131G>C (p.Gly2044Ala) rs56191579
NM_000059.3(BRCA2):c.6220C>A (p.His2074Asn) rs34309943
NM_000059.3(BRCA2):c.631+25C>T rs367871824
NM_000059.3(BRCA2):c.631+7A>G rs431825339
NM_000059.3(BRCA2):c.6317T>C (p.Leu2106Pro) rs56172926
NM_000059.3(BRCA2):c.6322C>T (p.Arg2108Cys) rs55794205
NM_000059.3(BRCA2):c.6323G>A (p.Arg2108His) rs35029074
NM_000059.3(BRCA2):c.6325G>A (p.Val2109Ile) rs79456940
NM_000059.3(BRCA2):c.6347A>G (p.His2116Arg) rs55953736
NM_000059.3(BRCA2):c.6362A>G (p.Glu2121Gly) rs397507846
NM_000059.3(BRCA2):c.6412G>T (p.Val2138Phe) rs11571659
NM_000059.3(BRCA2):c.6443C>A (p.Ser2148Tyr) rs80358880
NM_000059.3(BRCA2):c.6465C>T (p.Leu2155=) rs746099644
NM_000059.3(BRCA2):c.6513G>T (p.Val2171=) rs206076
NM_000059.3(BRCA2):c.67+62T>G rs11571574
NM_000059.3(BRCA2):c.6748A>G (p.Thr2250Ala) rs80358899
NM_000059.3(BRCA2):c.6761T>A (p.Phe2254Tyr) rs786202915
NM_000059.3(BRCA2):c.68-1G>T rs1060502376
NM_000059.3(BRCA2):c.68-7T>A rs81002830
NM_000059.3(BRCA2):c.6803G>A (p.Arg2268Lys) rs80358906
NM_000059.3(BRCA2):c.681+56C>T rs2126042
NM_000059.3(BRCA2):c.6821G>T (p.Gly2274Val) rs55712212
NM_000059.3(BRCA2):c.6853A>G (p.Ile2285Val) rs56272235
NM_000059.3(BRCA2):c.68_316del249 (p.Asp23_Leu105del) rs1555280328
NM_000059.3(BRCA2):c.6935A>T (p.Asp2312Val) rs80358916
NM_000059.3(BRCA2):c.7008-2A>T rs81002823
NM_000059.3(BRCA2):c.7008-62A>G rs76584943
NM_000059.3(BRCA2):c.7017G>C (p.Lys2339Asn) rs45574331
NM_000059.3(BRCA2):c.7051G>A (p.Ala2351Thr) rs80358930
NM_000059.3(BRCA2):c.7052C>G (p.Ala2351Gly) rs80358932
NM_000059.3(BRCA2):c.7057G>C (p.Gly2353Arg) rs80358935
NM_000059.3(BRCA2):c.7102T>G (p.Leu2368Val) rs397507382
NM_000059.3(BRCA2):c.7232A>C (p.Lys2411Thr) rs80358950
NM_000059.3(BRCA2):c.7319A>G (p.His2440Arg) rs4986860
NM_000059.3(BRCA2):c.7435+6G>A rs81002852
NM_000059.3(BRCA2):c.7436-4A>G rs81002904
NM_000059.3(BRCA2):c.7448G>A (p.Ser2483Asn) rs80358967
NM_000059.3(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707
NM_000059.3(BRCA2):c.7504C>T (p.Arg2502Cys) rs55716624
NM_000059.3(BRCA2):c.7506C>T (p.Arg2502=) rs140693106
NM_000059.3(BRCA2):c.7521A>G (p.Pro2507=) rs759383358
NM_000059.3(BRCA2):c.7522G>A (p.Gly2508Ser) rs80358978
NM_000059.3(BRCA2):c.7544C>T (p.Thr2515Ile) rs28897744
NM_000059.3(BRCA2):c.7559G>A (p.Arg2520Gln) rs80358982
NM_000059.3(BRCA2):c.7601C>T (p.Ala2534Val) rs74047012
NM_000059.3(BRCA2):c.7617+39G>A rs190660894
NM_000059.3(BRCA2):c.7618-21G>T rs376957350
NM_000059.3(BRCA2):c.7618-6G>T rs1057520251
NM_000059.3(BRCA2):c.7625C>T (p.Thr2542Met) rs80358989
NM_000059.3(BRCA2):c.7626G>A (p.Thr2542=) rs61754138
NM_000059.3(BRCA2):c.7712A>G (p.Glu2571Gly) rs55689095
NM_000059.3(BRCA2):c.771_775delTCAAA (p.Asn257Lysfs) rs80359671
NM_000059.3(BRCA2):c.7759C>T (p.Leu2587Phe) rs56335340
NM_000059.3(BRCA2):c.7805+13A>G rs149769332
NM_000059.3(BRCA2):c.7805+6C>G rs81002819
NM_000059.3(BRCA2):c.7806-2A>G rs81002836
NM_000059.3(BRCA2):c.7806-40A>G rs9590939
NM_000059.3(BRCA2):c.7826G>A (p.Gly2609Asp) rs80359009
NM_000059.3(BRCA2):c.7868A>G (p.His2623Arg) rs80359012
NM_000059.3(BRCA2):c.7878G>A (p.Trp2626Ter) rs80359013
NM_000059.3(BRCA2):c.7879A>T (p.Ile2627Phe) rs80359014
NM_000059.3(BRCA2):c.7916C>T (p.Pro2639Leu) rs774723315
NM_000059.3(BRCA2):c.7928C>G (p.Ala2643Gly) rs80359018
NM_000059.3(BRCA2):c.793+1G>A rs81002846
NM_000059.3(BRCA2):c.793+6T>C rs1222477192
NM_000059.3(BRCA2):c.794-11T>C rs81002822
NM_000059.3(BRCA2):c.7976+12G>A rs81002827
NM_000059.3(BRCA2):c.7976+23C>T rs183623188
NM_000059.3(BRCA2):c.7976+45G>C rs11571718
NM_000059.3(BRCA2):c.7988A>T (p.Glu2663Val) rs80359031
NM_000059.3(BRCA2):c.7992T>A (p.Ile2664=) rs80359800
NM_000059.3(BRCA2):c.7994A>G (p.Asp2665Gly) rs28897745
NM_000059.3(BRCA2):c.8009C>T (p.Ser2670Leu) rs80359035
NM_000059.3(BRCA2):c.8027T>C (p.Met2676Thr) rs80359038
NM_000059.3(BRCA2):c.8124T>G (p.Thr2708=) rs587780662
NM_000059.3(BRCA2):c.8149G>T (p.Ala2717Ser) rs28897747
NM_000059.3(BRCA2):c.8167G>C (p.Asp2723His) rs41293511
NM_000059.3(BRCA2):c.8182G>A (p.Val2728Ile) rs28897749
NM_000059.3(BRCA2):c.8187G>T (p.Lys2729Asn) rs80359065
NM_000059.3(BRCA2):c.8215G>A (p.Val2739Ile) rs80359069
NM_000059.3(BRCA2):c.8243G>A (p.Gly2748Asp) rs80359071
NM_000059.3(BRCA2):c.831T>G (p.Asn277Lys) rs28897705
NM_000059.3(BRCA2):c.8331+5A>G rs1555287099
NM_000059.3(BRCA2):c.8332-2A>G rs587782774
NM_000059.3(BRCA2):c.8421G>A (p.Ser2807=) rs371278843
NM_000059.3(BRCA2):c.8428A>G (p.Ser2810Gly) rs80359089
NM_000059.3(BRCA2):c.8460A>C (p.Val2820=) rs9590940
NM_000059.3(BRCA2):c.8470A>T (p.Arg2824Ter) rs886040778
NM_000059.3(BRCA2):c.8478C>A (p.Tyr2826Ter) rs776353983
NM_000059.3(BRCA2):c.8487+19A>G rs11571743
NM_000059.3(BRCA2):c.8487+3A>G rs81002806
NM_000059.3(BRCA2):c.8487+47C>T rs11571744
NM_000059.3(BRCA2):c.8487+8G>A rs81002838
NM_000059.3(BRCA2):c.8488-108C>T rs11571745
NM_000059.3(BRCA2):c.8503T>C (p.Ser2835Pro) rs11571746
NM_000059.3(BRCA2):c.8505A>G (p.Ser2835=) rs765655952
NM_000059.3(BRCA2):c.8567A>C (p.Glu2856Ala) rs11571747
NM_000059.3(BRCA2):c.8632+132dupC rs201392123
NM_000059.3(BRCA2):c.8633-26A>G rs56268579
NM_000059.3(BRCA2):c.8633-4T>A rs397507407
NM_000059.3(BRCA2):c.8687G>A (p.Arg2896His) rs80359128
NM_000059.3(BRCA2):c.8723T>G (p.Val2908Gly) rs28897753
NM_000059.3(BRCA2):c.8754+4A>G rs81002893
NM_000059.3(BRCA2):c.8764A>G (p.Ser2922Gly) rs80359132
NM_000059.3(BRCA2):c.8830A>T (p.Ile2944Phe) rs4987047
NM_000059.3(BRCA2):c.8850G>T (p.Lys2950Asn) rs28897754
NM_000059.3(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769
NM_000059.3(BRCA2):c.8905G>A (p.Val2969Met) rs59004709
NM_000059.3(BRCA2):c.8924delT (p.Val2975Glufs) rs397508020
NM_000059.3(BRCA2):c.8954-5A>G rs886040949
NM_000059.3(BRCA2):c.8954-5_8954-2delAACA rs587782878
NM_000059.3(BRCA2):c.898G>A (p.Val300Ile) rs878853616
NM_000059.3(BRCA2):c.8997G>A (p.Leu2999=) rs80359804
NM_000059.3(BRCA2):c.9004G>A (p.Glu3002Lys) rs80359152
NM_000059.3(BRCA2):c.9038C>T (p.Thr3013Ile) rs28897755
NM_000059.3(BRCA2):c.9085G>A (p.Ala3029Thr) rs56179254
NM_000059.3(BRCA2):c.909T>G (p.Ser303=) rs757430441
NM_000059.3(BRCA2):c.9104A>C (p.Tyr3035Ser) rs80359165
NM_000059.3(BRCA2):c.9175A>G (p.Lys3059Glu) rs80359174
NM_000059.3(BRCA2):c.9235delG (p.Val3079Phefs) rs397507422
NM_000059.3(BRCA2):c.9253A>C (p.Thr3085Pro) rs397507423
NM_000059.3(BRCA2):c.9257-16T>C rs11571818
NM_000059.3(BRCA2):c.9257G>C (p.Gly3086Ala) rs574271678
NM_000059.3(BRCA2):c.9275A>G (p.Tyr3092Cys) rs80359195
NM_000059.3(BRCA2):c.927A>G (p.Ser309=) rs80359806
NM_000059.3(BRCA2):c.9292T>C (p.Tyr3098His) rs41293521
NM_000059.3(BRCA2):c.9302T>G (p.Leu3101Arg) rs28897758
NM_000059.3(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759
NM_000059.3(BRCA2):c.9396A>G (p.Lys3132=) rs201172050
NM_000059.3(BRCA2):c.9433G>C (p.Val3145Leu) rs587776476
NM_000059.3(BRCA2):c.943T>A (p.Cys315Ser) rs79483201
NM_000059.3(BRCA2):c.9501+3A>T rs61757642
NM_000059.3(BRCA2):c.9502-12T>G rs81002803
NM_000059.3(BRCA2):c.956A>G (p.Asn319Ser) rs55939572
NM_000059.3(BRCA2):c.9586A>G (p.Lys3196Glu) rs80359228
NM_000059.3(BRCA2):c.9606G>A (p.Pro3202=) rs755890067
NM_000059.3(BRCA2):c.9634G>C (p.Gly3212Arg) rs55775473
NM_000059.3(BRCA2):c.9648+106delT rs11571824
NM_000059.3(BRCA2):c.9649-19G>A rs11571830
NM_000059.3(BRCA2):c.964A>C (p.Lys322Gln) rs11571640
NM_000059.3(BRCA2):c.9699_9702delTATG (p.Cys3233Trpfs) rs80359775
NM_000059.3(BRCA2):c.9720T>C (p.Val3240=) rs80359810
NM_000059.3(BRCA2):c.9728C>T (p.Pro3243Leu) rs80359241
NM_000059.3(BRCA2):c.9730G>A (p.Val3244Ile) rs11571831
NM_000059.3(BRCA2):c.978C>A (p.Ser326Arg) rs28897706
NM_000059.3(BRCA2):c.9949C>T (p.Leu3317=) rs777488349
NM_000059.3(BRCA2):c.9976A>T (p.Lys3326Ter) rs11571833
NM_000179.2(MSH6):c.-2G>T rs374748889
NM_000179.2(MSH6):c.10C>T (p.Gln4Ter) rs786201042
NM_000179.2(MSH6):c.116G>A (p.Gly39Glu) rs1042821
NM_000179.2(MSH6):c.1186C>G (p.Leu396Val) rs2020908
NM_000179.2(MSH6):c.1295T>C (p.Phe432Ser) rs750528093
NM_000179.2(MSH6):c.1474A>G (p.Met492Val) rs61754783
NM_000179.2(MSH6):c.1483C>T (p.Arg495Ter) rs587779212
NM_000179.2(MSH6):c.1508C>G (p.Ser503Cys) rs63750897
NM_000179.2(MSH6):c.1875C>T (p.Ser625=) rs63749886
NM_000179.2(MSH6):c.2057G>A (p.Gly686Asp) rs587779227
NM_000179.2(MSH6):c.2061T>A (p.Cys687Ter) rs267608068
NM_000179.2(MSH6):c.2239C>T (p.Leu747=) rs63751305
NM_000179.2(MSH6):c.2253T>C (p.Asn751=) rs2020913
NM_000179.2(MSH6):c.2300C>T (p.Thr767Ile) rs587781462
NM_000179.2(MSH6):c.2314C>T (p.Arg772Trp) rs63750138
NM_000179.2(MSH6):c.2342C>T (p.Pro781Leu) rs1553413710
NM_000179.2(MSH6):c.2398G>C (p.Val800Leu) rs61748083
NM_000179.2(MSH6):c.2561A>T (p.Lys854Met) rs34374438
NM_000179.2(MSH6):c.260+22C>G rs55927047
NM_000179.2(MSH6):c.2633T>C (p.Val878Ala) rs2020912
NM_000179.2(MSH6):c.3079G>C (p.Val1027Leu) rs876658397
NM_000179.2(MSH6):c.3172G>C (p.Asp1058His) rs863225404
NM_000179.2(MSH6):c.3226C>G (p.Arg1076Gly) rs63750617
NM_000179.2(MSH6):c.3238_3239delCT (p.Leu1080Valfs) rs863225406
NM_000179.2(MSH6):c.3246G>T (p.Pro1082=) rs3136351
NM_000179.2(MSH6):c.3261dupC (p.Phe1088Leufs) rs267608078
NM_000179.2(MSH6):c.3306T>A (p.Thr1102=) rs2020910
NM_000179.2(MSH6):c.3438+11_3438+14delCTTA rs377746844
NM_000179.2(MSH6):c.3438+14A>T rs2020911
NM_000179.2(MSH6):c.3439-16C>T rs192614006
NM_000179.2(MSH6):c.3439-1G>T rs587779263
NM_000179.2(MSH6):c.3439-2A>G rs267608098
NM_000179.2(MSH6):c.3488A>T (p.Glu1163Val) rs63750252
NM_000179.2(MSH6):c.3557-17delA rs778393939
NM_000179.2(MSH6):c.3557-4delT rs267608102
NM_000179.2(MSH6):c.3727A>T (p.Thr1243Ser) rs147453999
NM_000179.2(MSH6):c.3753_3756dupATTA (p.Val1253Ilefs) rs876661222
NM_000179.2(MSH6):c.3802-40C>G rs3136367
NM_000179.2(MSH6):c.3850dup (p.Thr1284Asnfs) rs1553333421
NM_000179.2(MSH6):c.3911G>A (p.Arg1304Lys) rs34625968
NM_000179.2(MSH6):c.4001+4_4001+8dupACTAA rs587782853
NM_000179.2(MSH6):c.4002-10delT rs59056100
NM_000179.2(MSH6):c.4068_4071dupGATT (p.Lys1358Aspfs) rs55740729
NM_000179.2(MSH6):c.431G>T (p.Ser144Ile) rs3211299
NM_000179.2(MSH6):c.457+13A>G rs1800933
NM_000179.2(MSH6):c.513A>G (p.Glu171=) rs786201116
NM_000179.2(MSH6):c.59C>T (p.Ala20Val) rs63750664
NM_000179.2(MSH6):c.642C>T (p.Tyr214=) rs1800937
NM_000179.2(MSH6):c.663A>C (p.Glu221Asp) rs41557217
NM_000179.2(MSH6):c.668A>G (p.Asn223Ser) rs587779316
NM_000179.2(MSH6):c.866_867delGCinsAA (p.Gly289Glu) rs267608079
NM_000179.2(MSH6):c.926C>G (p.Ser309Cys) rs544222338
NM_000249.3(MLH1):c.-28A>G rs56198082
NM_000249.3(MLH1):c.-42C>T rs41285097
NM_000249.3(MLH1):c.1039-11_1039-8dup rs57509953
NM_000249.3(MLH1):c.1039-8T>A rs193922367
NM_000249.3(MLH1):c.1039-8_1039-7insTTTTTA rs535965616
NM_000249.3(MLH1):c.1151T>A (p.Val384Asp) rs63750447
NM_000249.3(MLH1):c.1166G>A (p.Arg389Gln) rs63750361
NM_000249.3(MLH1):c.1217G>A (p.Ser406Asn) rs41294980
NM_000249.3(MLH1):c.1219C>T (p.Gln407Ter) rs1057517541
NM_000249.3(MLH1):c.1558+14G>A rs41562513
NM_000249.3(MLH1):c.1637A>G (p.Lys546Arg) rs587779954
NM_000249.3(MLH1):c.1667+2T>C rs878853780
NM_000249.3(MLH1):c.1668-19A>G rs9876116
NM_000249.3(MLH1):c.1668-1G>A rs267607845
NM_000249.3(MLH1):c.1668-3C>A rs267607844
NM_000249.3(MLH1):c.1820T>A (p.Leu607His) rs41295284
NM_000249.3(MLH1):c.1852_1853delAAinsGC (p.Lys618Ala) rs35502531
NM_000249.3(MLH1):c.1853A>C (p.Lys618Thr) rs63750449
NM_000249.3(MLH1):c.1918C>T (p.Pro640Ser) rs63749792
NM_000249.3(MLH1):c.1919C>T (p.Pro640Leu) rs267607875
NM_000249.3(MLH1):c.1959G>T (p.Leu653=) rs1800146
NM_000249.3(MLH1):c.1963A>G (p.Ile655Val) rs55907433
NM_000249.3(MLH1):c.1989G>T (p.Glu663Asp) rs63751662
NM_000249.3(MLH1):c.198C>T (p.Thr66=) rs61751642
NM_000249.3(MLH1):c.199G>A (p.Gly67Arg) rs63750206
NM_000249.3(MLH1):c.2035G>T (p.Glu679Ter) rs587778971
NM_000249.3(MLH1):c.2038T>C (p.Cys680Arg) rs63750809
NM_000249.3(MLH1):c.2041G>A (p.Ala681Thr) rs63750217
NM_000249.3(MLH1):c.207+1G>A rs267607718
NM_000249.3(MLH1):c.2146G>A (p.Val716Met) rs35831931
NM_000249.3(MLH1):c.2152C>T (p.His718Tyr) rs2020873
NM_000249.3(MLH1):c.2174G>A (p.Arg725His) rs566928243
NM_000249.3(MLH1):c.2250C>G (p.Tyr750Ter) rs267607893
NM_000249.3(MLH1):c.2252_2253delAA (p.Lys751Serfs) rs267607901
NM_000249.3(MLH1):c.230G>A (p.Cys77Tyr) rs63750437
NM_000249.3(MLH1):c.244A>G (p.Thr82Ala) rs587778998
NM_000249.3(MLH1):c.250A>G (p.Lys84Glu) rs63750641
NM_000249.3(MLH1):c.301G>A (p.Gly101Ser) rs267607726
NM_000249.3(MLH1):c.303T>G (p.Gly101=) rs4647220
NM_000249.3(MLH1):c.304G>A (p.Glu102Lys) rs63750453
NM_000249.3(MLH1):c.306G>T (p.Glu102Asp) rs63751665
NM_000249.3(MLH1):c.380+1G>A rs267607745
NM_000249.3(MLH1):c.394G>C (p.Asp132His) rs28930073
NM_000249.3(MLH1):c.438A>G (p.Gln146=) rs377279035
NM_000249.3(MLH1):c.453+1G>T rs267607750
NM_000249.3(MLH1):c.474C>T (p.Asn158=) rs4647256
NM_000249.3(MLH1):c.52C>T (p.Arg18Cys) rs367654552
NM_000249.3(MLH1):c.55A>T (p.Ile19Phe) rs63750648
NM_000249.3(MLH1):c.655A>G (p.Ile219Val) rs1799977
NM_000249.3(MLH1):c.677G>T (p.Arg226Leu) rs63751711
NM_000249.3(MLH1):c.790+10A>G rs182733777
NM_000249.3(MLH1):c.790+4A>G rs267607786
NM_000249.3(MLH1):c.791-1G>A rs267607795
NM_000249.3(MLH1):c.793C>A (p.Arg265Ser) rs63751194
NM_000249.3(MLH1):c.793C>T (p.Arg265Cys) rs63751194
NM_000249.3(MLH1):c.794G>A (p.Arg265His) rs63751448
NM_000249.3(MLH1):c.843A>C (p.Ala281=) rs146796765
NM_000249.3(MLH1):c.885-16_885-15delCT rs267607804
NM_000251.2(MSH2):c.1077-10T>C rs17224360
NM_000251.2(MSH2):c.1276+1G>A rs267607950
NM_000251.2(MSH2):c.1386+1G>A rs267607957
NM_000251.2(MSH2):c.1387-8G>T rs187525243
NM_000251.2(MSH2):c.1511-9A>T rs12998837
NM_000251.2(MSH2):c.1661+12G>A rs3732183
NM_000251.2(MSH2):c.1661+5G>C rs267607972
NM_000251.2(MSH2):c.1662-9G>A rs17218356
NM_000251.2(MSH2):c.1666T>C (p.Leu556=) rs61756466
NM_000251.2(MSH2):c.1737A>G (p.Lys579=) rs61756467
NM_000251.2(MSH2):c.198C>T (p.Tyr66=) rs730881784
NM_000251.2(MSH2):c.2006-6T>C rs2303428
NM_000251.2(MSH2):c.2075G>A (p.Gly692Glu) rs63751432
NM_000251.2(MSH2):c.2087C>T (p.Pro696Leu) rs267607994
NM_000251.2(MSH2):c.211+9C>G rs2303426
NM_000251.2(MSH2):c.2205C>T (p.Ile735=) rs533553381
NM_000251.2(MSH2):c.2211-2A>G rs267608001
NM_000251.2(MSH2):c.2211-2A>T rs267608001
NM_000251.2(MSH2):c.23C>T (p.Thr8Met) rs17217716
NM_000251.2(MSH2):c.2425G>T (p.Glu809Ter) rs202145681
NM_000251.2(MSH2):c.274C>G (p.Leu92Val) rs587779154
NM_000251.2(MSH2):c.2785C>T (p.Arg929Ter) rs551060742
NM_000251.2(MSH2):c.339G>A (p.Lys113=) rs35898375
NM_000251.2(MSH2):c.380A>G (p.Asn127Ser) rs17217772
NM_000251.2(MSH2):c.382C>G (p.Leu128Val) rs145649774
NM_000251.2(MSH2):c.490G>T (p.Gly164Trp) rs63750582
NM_000251.2(MSH2):c.518T>C (p.Leu173Pro) rs63750070
NM_000251.2(MSH2):c.560T>C (p.Leu187Pro) rs63751444
NM_000251.2(MSH2):c.571_573delCTC (p.Leu191del) rs587779165
NM_000251.2(MSH2):c.573C>T (p.Leu191=) rs1800151
NM_000251.2(MSH2):c.92C>G (p.Thr31Ser) rs746635262
NM_000251.2(MSH2):c.943-2A>G rs587779198
NM_000251.2(MSH2):c.965G>A (p.Gly322Asp) rs4987188
NM_000251.2(MSH2):c.984C>T (p.Ala328=) rs4987189
NM_000251.2(MSH2):c.998G>A (p.Cys333Tyr) rs63750828
NM_000296.3(PKD1):c.3785A>G (p.His1262Arg) rs1057518976
NM_000297.3(PKD2):c.1094+3_1094+6delAAGT rs1553925470
NM_000297.3(PKD2):c.1359A>G (p.Pro453=) rs17013754
NM_000297.3(PKD2):c.1830G>A (p.Ala610=) rs144968710
NM_000297.3(PKD2):c.356G>A (p.Arg119His) rs748654180
NM_000297.3(PKD2):c.420G>A (p.Gly140=) rs2728118
NM_000297.3(PKD2):c.444C>T (p.Gly148=) rs181704860
NM_000297.3(PKD2):c.568G>A (p.Ala190Thr) rs117078377
NM_000297.3(PKD2):c.83G>C (p.Arg28Pro) rs1805044
NM_000535.5(PMS2):c.2186_2187delTC (p.Leu729Glnfs) rs587779335
NM_000535.5(PMS2):c.2249G>A (p.Gly750Asp) rs587779337
NM_000535.6(PMS2):c.137G>A (p.Ser46Asn) rs121434629
NM_000535.6(PMS2):c.137G>T (p.Ser46Ile) rs121434629
NM_000535.6(PMS2):c.1408C>T (p.Pro470Ser) rs1805321
NM_000535.6(PMS2):c.1454C>A (p.Thr485Lys) rs1805323
NM_000535.6(PMS2):c.1531A>G (p.Thr511Ala) rs2228007
NM_000535.6(PMS2):c.1621A= (p.Lys541=) rs2228006
NM_000535.6(PMS2):c.1688G>T (p.Arg563Leu) rs63750668
NM_000535.6(PMS2):c.1831dup (p.Ile611Asnfs) rs63750250
NM_000535.6(PMS2):c.1866G>A (p.Met622Ile) rs1805324
NM_000535.6(PMS2):c.2006+6G>A rs111905775
NM_000535.6(PMS2):c.2007-4G>A rs1805326
NM_000535.6(PMS2):c.2007-7C>T rs55954143
NM_000535.6(PMS2):c.2253T>C (p.Phe751=) rs1805325
NM_000535.6(PMS2):c.23+7G>T rs878854047
NM_000535.6(PMS2):c.2324A>G (p.Asn775Ser) rs17420802
NM_000535.6(PMS2):c.2340C>T (p.Pro780=) rs142230276
NM_000535.6(PMS2):c.2466T>C (p.Leu822=) rs10000
NM_000535.6(PMS2):c.2570G>C (p.Gly857Ala) rs1802683
NM_000535.6(PMS2):c.52A>G (p.Ile18Val) rs63750123
NM_000535.6(PMS2):c.538-1G>C rs988423880
NM_000535.6(PMS2):c.59G>A (p.Arg20Gln) rs10254120
NM_000535.6(PMS2):c.620G>A (p.Gly207Glu) rs374704824
NM_000535.6(PMS2):c.780C>G (p.Ser260=) rs1805319
NM_000535.6(PMS2):c.7C>A (p.Arg3=) rs763939668
NM_000535.7(PMS2):c.1379G>A (p.Gly460Asp) rs150201462
NM_001009944.2(PKD1):c.107C>A (p.Pro36His) rs560049593
NM_001009944.2(PKD1):c.11356G>C (p.Glu3786Gln) rs147992238
NM_001009944.2(PKD1):c.11537+3_11537+5dupGGG rs201204878
NM_001009944.2(PKD1):c.12712C>T (p.Gln4238Ter) rs1045675831
NM_001009944.2(PKD1):c.12765C>T (p.Pro4255=) rs62038811
NM_001009944.2(PKD1):c.1714C>T (p.Pro572Ser) rs149022148
NM_001009944.2(PKD1):c.214C>T (p.Leu72=) rs972113626
NM_001009944.2(PKD1):c.2235C>G (p.Ala745=) rs533569454
NM_001009944.2(PKD1):c.3502C>T (p.Pro1168Ser) rs146887330
NM_001009944.2(PKD1):c.4264G>A (p.Ala1422Thr) rs140980374
NM_001009944.2(PKD1):c.4546G>A (p.Ala1516Thr) rs148164067
NM_001009944.2(PKD1):c.6078C>T (p.Val2026=) rs147253810
NM_001009944.2(PKD1):c.6488G>A (p.Arg2163Gln) rs145217118
NM_001009944.2(PKD1):c.6545A>G (p.Gln2182Arg) rs147685291
NM_001009944.2(PKD1):c.6598C>T (p.Arg2200Cys) rs140869992
NM_001009944.2(PKD1):c.7642G>C (p.Glu2548Gln) rs28369051
NM_001009944.2(PKD1):c.7863+13T>C rs115024665
NM_001009944.2(PKD1):c.8020C>T (p.Pro2674Ser) rs144557371
NM_001009944.2(PKD1):c.8161+8G>A rs199569003
NM_001009944.2(PKD1):c.8298C>T (p.Ser2766=) rs145850037
NM_001009944.2(PKD1):c.8545delG (p.Ala2849Profs) rs1555451093
NM_001009944.2(PKD1):c.9270C>T (p.Val3090=) rs149056734
NM_001009944.2(PKD1):c.9957C>T (p.Ser3319=) rs141101590
NM_001048171.1(MUTYH):c.648+14C>G rs752537118
NM_001128425.1(MUTYH):c.-127C>T rs3219466
NM_001128425.1(MUTYH):c.1014G>C (p.Gln338His) rs3219489
NM_001128425.1(MUTYH):c.1118C>T (p.Ala373Val) rs35352891
NM_001128425.1(MUTYH):c.1147delC (p.Ala385Profs) rs587778536
NM_001128425.1(MUTYH):c.1186+1G>A rs587781337
NM_001128425.1(MUTYH):c.1187G>A (p.Gly396Asp) rs36053993
NM_001128425.1(MUTYH):c.1258C>A (p.Leu420Met) rs144079536
NM_001128425.1(MUTYH):c.1276C>T (p.Arg426Cys) rs150792276
NM_001128425.1(MUTYH):c.129C>T (p.Asn43=) rs141679570
NM_001128425.1(MUTYH):c.1431G>C (p.Thr477=) rs74318065
NM_001128425.1(MUTYH):c.1544C>T (p.Ser515Phe) rs140118273
NM_001128425.1(MUTYH):c.1585C>A (p.Leu529Met) rs3219496
NM_001128425.1(MUTYH):c.1601G>A (p.Arg534Gln) rs3219497
NM_001128425.1(MUTYH):c.309G>A (p.Trp103Ter) rs748170941
NM_001128425.1(MUTYH):c.312C>T (p.Tyr104=) rs121908380
NM_001128425.1(MUTYH):c.325C>T (p.Arg109Trp) rs765123255
NM_001128425.1(MUTYH):c.36+11C>T rs2275602
NM_001128425.1(MUTYH):c.389-1G>C rs372267274
NM_001128425.1(MUTYH):c.467G>A (p.Trp156Ter) rs762307622
NM_001128425.1(MUTYH):c.505-4A>G rs201678305
NM_001128425.1(MUTYH):c.53C>T (p.Pro18Leu) rs79777494
NM_001128425.1(MUTYH):c.548G>A (p.Gly183Asp) rs587781864
NM_001128425.1(MUTYH):c.64G>A (p.Val22Met) rs3219484
NM_001128425.1(MUTYH):c.713A>G (p.Asn238Ser) rs1057517765
NM_001128425.1(MUTYH):c.721C>T (p.Arg241Trp) rs34126013
NM_001128425.1(MUTYH):c.733C>T (p.Arg245Cys) rs200495564
NM_001128425.1(MUTYH):c.734G>A (p.Arg245His) rs140342925
NM_001128425.1(MUTYH):c.739C>T (p.Arg247Ter) rs587782885
NM_001128425.1(MUTYH):c.74G>A (p.Gly25Asp) rs75321043
NM_001128425.1(MUTYH):c.884C>T (p.Pro295Leu) rs374950566
NM_001128425.1(MUTYH):c.933+3A>C rs587780751
NM_001128425.1(MUTYH):c.985G>A (p.Val329Met) rs147718169
NM_001128425.1(MUTYH):c.998-9C>T rs3219488
NM_007294.3(BRCA1):c.-19-10T>C rs201866997
NM_007294.3(BRCA1):c.-19-3A>G rs273898669
NM_007294.3(BRCA1):c.-192T>C rs113323025
NM_007294.3(BRCA1):c.-20+11C>T rs273898672
NM_007294.3(BRCA1):c.-86C>T rs143160357
NM_007294.3(BRCA1):c.1065G>A (p.Lys355=) rs41286292
NM_007294.3(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950
NM_007294.3(BRCA1):c.1106_1108delATG (p.Asp369del) rs80358325
NM_007294.3(BRCA1):c.1137T>G (p.Ile379Met) rs56128296
NM_007294.3(BRCA1):c.114G>A (p.Lys38=) rs1800062
NM_007294.3(BRCA1):c.134+111C>T rs8176100
NM_007294.3(BRCA1):c.1396C>T (p.Arg466Trp) rs80356964
NM_007294.3(BRCA1):c.1397G>A (p.Arg466Gln) rs199540030
NM_007294.3(BRCA1):c.1405G>A (p.Ala469Thr) rs397507187
NM_007294.3(BRCA1):c.1441C>G (p.Leu481Val) rs1397842308
NM_007294.3(BRCA1):c.1456T>C (p.Phe486Leu) rs55906931
NM_007294.3(BRCA1):c.1486C>T (p.Arg496Cys) rs28897676
NM_007294.3(BRCA1):c.1487G>A (p.Arg496His) rs28897677
NM_007294.3(BRCA1):c.154C>T (p.Leu52Phe) rs80357084
NM_007294.3(BRCA1):c.1573G>A (p.Val525Ile) rs80357273
NM_007294.3(BRCA1):c.1617G>A (p.Thr539=) rs372002119
NM_007294.3(BRCA1):c.1648A>C (p.Asn550His) rs56012641
NM_007294.3(BRCA1):c.1703C>T (p.Pro568Leu) rs80356910
NM_007294.3(BRCA1):c.182G>A (p.Cys61Tyr) rs80357093
NM_007294.3(BRCA1):c.1865C>T (p.Ala622Val) rs56039126
NM_007294.3(BRCA1):c.1911T>C (p.Thr637=) rs62625305
NM_007294.3(BRCA1):c.1961delA (p.Lys654Serfs) rs80357522
NM_007294.3(BRCA1):c.1971A>G (p.Gln657=) rs28897679
NM_007294.3(BRCA1):c.1974G>C (p.Met658Ile) rs55678461
NM_007294.3(BRCA1):c.1994delA (p.Asn665Thrfs) rs1555590714
NM_007294.3(BRCA1):c.199G>T (p.Asp67Tyr) rs80357102
NM_007294.3(BRCA1):c.2002C>T (p.Leu668Phe) rs80357250
NM_007294.3(BRCA1):c.2006T>C (p.Met669Thr) rs80356895
NM_007294.3(BRCA1):c.2077G>A (p.Asp693Asn) rs4986850
NM_007294.3(BRCA1):c.2082C>T (p.Ser694=) rs1799949
NM_007294.3(BRCA1):c.2083G>T (p.Asp695Tyr) rs28897681
NM_007294.3(BRCA1):c.2109A>G (p.Thr703=) rs4986844
NM_007294.3(BRCA1):c.212+10T>G rs80358174
NM_007294.3(BRCA1):c.212+4T>C rs398122652
NM_007294.3(BRCA1):c.2167A>G (p.Asn723Asp) rs4986845
NM_007294.3(BRCA1):c.2232T>C (p.Ala744=) rs4986846
NM_007294.3(BRCA1):c.2286A>T (p.Arg762Ser) rs273898682
NM_007294.3(BRCA1):c.2315T>C (p.Val772Ala) rs80357467
NM_007294.3(BRCA1):c.2347A>G (p.Ile783Val) rs80356948
NM_007294.3(BRCA1):c.2352G>A (p.Ser784=) rs372017932
NM_007294.3(BRCA1):c.2368A>G (p.Thr790Ala) rs41286298
NM_007294.3(BRCA1):c.2389G>T (p.Glu797Ter) rs62625306
NM_007294.3(BRCA1):c.2426A>G (p.Glu809Gly) rs397507201
NM_007294.3(BRCA1):c.2458A>G (p.Lys820Glu) rs56082113
NM_007294.3(BRCA1):c.2477C>A (p.Thr826Lys) rs28897683
NM_007294.3(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709
NM_007294.3(BRCA1):c.2522G>A (p.Arg841Gln) rs80357337
NM_007294.3(BRCA1):c.2525A>G (p.Glu842Gly) rs28897684
NM_007294.3(BRCA1):c.2566T>C (p.Tyr856His) rs80356892
NM_007294.3(BRCA1):c.2634A>G (p.Ala878=) rs730881451
NM_007294.3(BRCA1):c.2657C>G (p.Ser886Cys) rs587782134
NM_007294.3(BRCA1):c.2662C>T (p.His888Tyr) rs80357480
NM_007294.3(BRCA1):c.2668G>A (p.Gly890Arg) rs80357200
NM_007294.3(BRCA1):c.2669G>T (p.Gly890Val) rs80356874
NM_007294.3(BRCA1):c.2733A>G (p.Gly911=) rs1800740
NM_007294.3(BRCA1):c.2773A>C (p.Ile925Leu) rs4986847
NM_007294.3(BRCA1):c.2998_3003delGAGGAA (p.Glu1000_Glu1001del) rs80358333
NM_007294.3(BRCA1):c.301+8T>C rs80358101
NM_007294.3(BRCA1):c.3022A>G (p.Met1008Val) rs56321129
NM_007294.3(BRCA1):c.3024G>A (p.Met1008Ile) rs1800704
NM_007294.3(BRCA1):c.305C>G (p.Ala102Gly) rs80357190
NM_007294.3(BRCA1):c.3083G>A (p.Arg1028His) rs80357459
NM_007294.3(BRCA1):c.3113A>C (p.Glu1038Ala) rs16941
NM_007294.3(BRCA1):c.3130A>G (p.Ile1044Val) rs80357271
NM_007294.3(BRCA1):c.3179A>C (p.Glu1060Ala) rs80357184
NM_007294.3(BRCA1):c.3238T>C (p.Leu1080=) rs754597283
NM_007294.3(BRCA1):c.3247A>G (p.Met1083Val) rs397507213
NM_007294.3(BRCA1):c.3302G>A (p.Ser1101Asn) rs41293447
NM_007294.3(BRCA1):c.3327A>C (p.Lys1109Asn) rs41293449
NM_007294.3(BRCA1):c.3328_3330delAAG (p.Lys1110del) rs80358335
NM_007294.3(BRCA1):c.3334delG (p.Glu1112Asnfs) rs1555587944
NM_007294.3(BRCA1):c.3418A>G (p.Ser1140Gly) rs2227945
NM_007294.3(BRCA1):c.3454G>A (p.Asp1152Asn) rs80357175
NM_007294.3(BRCA1):c.3600G>C (p.Gln1200His) rs56214134
NM_007294.3(BRCA1):c.3640G>A (p.Glu1214Lys) rs80356923
NM_007294.3(BRCA1):c.3708T>G (p.Asn1236Lys) rs28897687
NM_007294.3(BRCA1):c.3711A>G (p.Ile1237Met) rs80357388
NM_007294.3(BRCA1):c.3713C>T (p.Pro1238Leu) rs28897688
NM_007294.3(BRCA1):c.3739G>A (p.Val1247Ile) rs80357191
NM_007294.3(BRCA1):c.3748G>A (p.Glu1250Lys) rs28897686
NM_007294.3(BRCA1):c.3756_3759delGTCT (p.Ser1253Argfs) rs80357868
NM_007294.3(BRCA1):c.3783A>G (p.Leu1261=) rs80356831
NM_007294.3(BRCA1):c.378A>G (p.Gln126=) rs786201256
NM_007294.3(BRCA1):c.396C>A (p.Asn132Lys) rs80357413
NM_007294.3(BRCA1):c.398G>A (p.Arg133His) rs80357357
NM_007294.3(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689
NM_007294.3(BRCA1):c.4046C>T (p.Thr1349Met) rs80357345
NM_007294.3(BRCA1):c.4065_4068delTCAA (p.Asn1355Lysfs) rs80357508
NM_007294.3(BRCA1):c.4096+1G>A rs80358178
NM_007294.3(BRCA1):c.4096+3A>G rs80358015
NM_007294.3(BRCA1):c.4113G>A (p.Gly1371=) rs147448807
NM_007294.3(BRCA1):c.4115G>A (p.Cys1372Tyr) rs55848034
NM_007294.3(BRCA1):c.4127C>G (p.Thr1376Arg) rs80356986
NM_007294.3(BRCA1):c.4132G>A (p.Val1378Ile) rs28897690
NM_007294.3(BRCA1):c.4183C>T (p.Gln1395Ter) rs80357260
NM_007294.3(BRCA1):c.4185+14G>C rs762153716
NM_007294.3(BRCA1):c.4245A>G (p.Glu1415=) rs41293453
NM_007294.3(BRCA1):c.4255G>C (p.Glu1419Gln) rs80357309
NM_007294.3(BRCA1):c.425C>A (p.Pro142His) rs55971303
NM_007294.3(BRCA1):c.4357+17A>G rs80358180
NM_007294.3(BRCA1):c.4357+4T>C rs1555583978
NM_007294.3(BRCA1):c.4358-10C>T rs80358111
NM_007294.3(BRCA1):c.4484+14A>G rs80358022
NM_007294.3(BRCA1):c.4484+61G>T rs80358185
NM_007294.3(BRCA1):c.4485-1G>A rs80358189
NM_007294.3(BRCA1):c.4485-2A>T rs80358054
NM_007294.3(BRCA1):c.4485-63C>G rs273900734
NM_007294.3(BRCA1):c.4516delG (p.Asp1506Ilefs) rs273900736
NM_007294.3(BRCA1):c.4535G>T (p.Ser1512Ile) rs1800744
NM_007294.3(BRCA1):c.4600G>A (p.Val1534Met) rs55815649
NM_007294.3(BRCA1):c.4636G>A (p.Asp1546Asn) rs28897691
NM_007294.3(BRCA1):c.463C>G (p.Gln155Glu) rs80357180
NM_007294.3(BRCA1):c.4644G>A (p.Thr1548=) rs28897692
NM_007294.3(BRCA1):c.4654T>C (p.Tyr1552His) rs1265352633
NM_007294.3(BRCA1):c.4676-8C>G rs80358021
NM_007294.3(BRCA1):c.4682C>T (p.Thr1561Ile) rs56158747
NM_007294.3(BRCA1):c.4776C>G (p.Asn1592Lys) rs761925468
NM_007294.3(BRCA1):c.4812A>G (p.Gln1604=) rs28897693
NM_007294.3(BRCA1):c.4816A>G (p.Lys1606Glu) rs80356943
NM_007294.3(BRCA1):c.4837A>G (p.Ser1613Gly) rs1799966
NM_007294.3(BRCA1):c.4868C>G (p.Ala1623Gly) rs80356862
NM_007294.3(BRCA1):c.4882A>G (p.Met1628Val) rs80357465
NM_007294.3(BRCA1):c.4883T>C (p.Met1628Thr) rs4986854
NM_007294.3(BRCA1):c.4934G>C (p.Arg1645Thr) rs70953661
NM_007294.3(BRCA1):c.4935G>C (p.Arg1645Ser) rs80357373
NM_007294.3(BRCA1):c.4986+3G>C rs80358023
NM_007294.3(BRCA1):c.4986+6T>G rs80358086
NM_007294.3(BRCA1):c.4987-20A>G rs80358035
NM_007294.3(BRCA1):c.4987-2A>G rs397509212
NM_007294.3(BRCA1):c.4992C>T (p.Leu1664=) rs142459158
NM_007294.3(BRCA1):c.4997dupA (p.Tyr1666Terfs) rs876658947
NM_007294.3(BRCA1):c.5005G>T (p.Ala1669Ser) rs80357087
NM_007294.3(BRCA1):c.5068A>C (p.Lys1690Gln) rs397507239
NM_007294.3(BRCA1):c.5074+2T>C rs80358089
NM_007294.3(BRCA1):c.5074+6C>G rs80358032
NM_007294.3(BRCA1):c.5074G>C (p.Asp1692His) rs80187739
NM_007294.3(BRCA1):c.5075-53C>T rs8176258
NM_007294.3(BRCA1):c.5090G>A (p.Cys1697Tyr) rs397507241
NM_007294.3(BRCA1):c.5100A>G (p.Thr1700=) rs45519437
NM_007294.3(BRCA1):c.5116G>A (p.Gly1706Arg) rs886040864
NM_007294.3(BRCA1):c.5117G>C (p.Gly1706Ala) rs80356860
NM_007294.3(BRCA1):c.5152+85delT rs8176259
NM_007294.3(BRCA1):c.5158A>G (p.Thr1720Ala) rs56195342
NM_007294.3(BRCA1):c.5165C>T (p.Ser1722Phe) rs80357104
NM_007294.3(BRCA1):c.5194-2A>G rs80358069
NM_007294.3(BRCA1):c.5194-4T>C rs1057524456
NM_007294.3(BRCA1):c.5207T>C (p.Val1736Ala) rs45553935
NM_007294.3(BRCA1):c.5216A>G (p.Asp1739Gly) rs80357227
NM_007294.3(BRCA1):c.5252G>A (p.Arg1751Gln) rs80357442
NM_007294.3(BRCA1):c.5266dupC (p.Gln1756Profs) rs397507247
NM_007294.3(BRCA1):c.5277+78G>A rs80358107
NM_007294.3(BRCA1):c.5278-14C>G rs80358105
NM_007294.3(BRCA1):c.528G>A (p.Thr176=) rs34545365
NM_007294.3(BRCA1):c.5306A>G (p.Tyr1769Cys) rs397509257
NM_007294.3(BRCA1):c.5324T>G (p.Met1775Arg) rs41293463
NM_007294.3(BRCA1):c.5327C>A (p.Pro1776His) rs398122695
NM_007294.3(BRCA1):c.5333-8C>T rs80358084
NM_007294.3(BRCA1):c.5333A>G (p.Asp1778Gly) rs80357041
NM_007294.3(BRCA1):c.5347A>C (p.Met1783Leu) rs80357012
NM_007294.3(BRCA1):c.5348T>C (p.Met1783Thr) rs55808233
NM_007294.3(BRCA1):c.536A>G (p.Tyr179Cys) rs56187033
NM_007294.3(BRCA1):c.5406+33A>T rs80358092
NM_007294.3(BRCA1):c.5406+8T>C rs55946644
NM_007294.3(BRCA1):c.5411T>A (p.Val1804Asp) rs80356920
NM_007294.3(BRCA1):c.5427dup (p.Val1810Cysfs) rs1555574739
NM_007294.3(BRCA1):c.5468-10C>A rs8176316
NM_007294.3(BRCA1):c.548-17G>T rs80358014
NM_007294.3(BRCA1):c.548-58delT rs8176144
NM_007294.3(BRCA1):c.5497G>A (p.Val1833Met) rs80357268
NM_007294.3(BRCA1):c.5503C>T (p.Arg1835Ter) rs41293465
NM_007294.3(BRCA1):c.5509T>G (p.Trp1837Gly) rs80356959
NM_007294.3(BRCA1):c.5521A>C (p.Ser1841Arg) rs80357299
NM_007294.3(BRCA1):c.5538G>A (p.Gln1846=) rs80356849
NM_007294.3(BRCA1):c.5576C>G (p.Pro1859Arg) rs80357322
NM_007294.3(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530
NM_007294.3(BRCA1):c.571G>A (p.Val191Ile) rs80357090
NM_007294.3(BRCA1):c.591C>T (p.Cys197=) rs1799965
NM_007294.3(BRCA1):c.594-2A>C rs80358033
NM_007294.3(BRCA1):c.670+16G>A rs199916228
NM_007294.3(BRCA1):c.671-12delG rs273902781
NM_007294.3(BRCA1):c.68_69delAG (p.Glu23Valfs) rs386833395
NM_007294.3(BRCA1):c.693G>A (p.Thr231=) rs62625298
NM_007294.3(BRCA1):c.736T>G (p.Leu246Val) rs28897675
NM_007294.3(BRCA1):c.75C>T (p.Pro25=) rs80356839
NM_007294.3(BRCA1):c.786G>A (p.Gln262=) rs397509317
NM_007294.3(BRCA1):c.80+5G>C rs80358045
NM_007294.3(BRCA1):c.807G>A (p.Leu269=) rs149867679
NM_007294.3(BRCA1):c.81-14C>T rs80358006
NM_007294.3(BRCA1):c.81-17C>G rs757442952
NM_007294.3(BRCA1):c.81-6T>C rs80358179
NM_007294.3(BRCA1):c.81-?_134+?del
NM_007294.3(BRCA1):c.946A>G (p.Ser316Gly) rs55874646
NM_007294.3(BRCA1):c.981A>G (p.Thr327=) rs1800063
NM_138694.3(PKHD1):c.10515C>A (p.Ser3505Arg) rs139014478
NM_138694.3(PKHD1):c.10521C>T (p.His3507=) rs34460237
NM_138694.3(PKHD1):c.1234-10T>A rs4715272
NM_138694.3(PKHD1):c.1587T>C (p.Asn529=) rs62406036
NM_138694.3(PKHD1):c.2046A>C (p.Pro682=) rs4715271
NM_138694.3(PKHD1):c.214C>T (p.Leu72=) rs6901799
NM_138694.3(PKHD1):c.234C>T (p.Asp78=) rs9474143
NM_138694.3(PKHD1):c.2489A>G (p.Asn830Ser) rs62406032
NM_138694.3(PKHD1):c.3407A>G (p.Tyr1136Cys) rs41273726
NM_138694.3(PKHD1):c.3756G>C (p.Leu1252=) rs9689306
NM_138694.3(PKHD1):c.5236+14A>G rs12210725
NM_138694.3(PKHD1):c.5825A>G (p.Asp1942Gly) rs1210846081
NM_138694.3(PKHD1):c.5896C>T (p.Leu1966=) rs1266923
NM_138694.3(PKHD1):c.6992T>A (p.Ile2331Lys) rs200179145
NM_138694.3(PKHD1):c.8345G>C (p.Gly2782Ala) rs147222255
NM_138694.3(PKHD1):c.8606C>A (p.Thr2869Lys) rs142522748
NM_138694.3(PKHD1):c.9530T>C (p.Ile3177Thr) rs200511261

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