ClinVar Miner

Variants with conflicting interpretations studied for Familial cancer of breast

Coded as:
Minimum review status of the submission for Familial cancer of breast: Y axis collection method of the submission for Familial cancer of breast:
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
1471 2027 23 336 293 20 50 583

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 conditions
Familial cancer of breast pathogenic likely pathogenic uncertain significance likely benign benign association risk factor other
pathogenic 4 98 9 1 1 0 16 1
likely pathogenic 81 0 21 1 2 0 8 0
uncertain significance 10 26 0 165 35 1 1 0
likely benign 1 1 104 2 84 0 0 0
benign 1 2 81 160 17 0 1 0

Condition to condition summary #

Total conditions: 66
Download table as spreadsheet
Condition 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
Hereditary cancer-predisposing syndrome 0 1740 6 192 182 0 25 380
not provided 0 822 21 159 101 0 26 279
not specified 0 388 0 124 73 0 6 181
Familial cancer of breast 3519 421 4 87 50 0 11 141
Hereditary breast and ovarian cancer syndrome 0 167 4 64 3 0 4 71
Breast-ovarian cancer, familial 2 0 216 2 47 29 0 2 60
Fanconi anemia 0 20 0 39 12 0 0 46
Breast-ovarian cancer, familial 1 0 218 2 37 18 0 1 40
Neoplasm of the breast 0 29 2 18 12 0 3 34
Breast and/or ovarian cancer 0 37 3 8 2 0 2 14
Pancreatic cancer 3 0 8 0 10 2 4 1 14
Breast cancer, susceptibility to 0 3 0 3 0 10 0 12
Colorectal cancer 0 2 0 3 3 0 3 9
Ataxia-telangiectasia syndrome 0 5 0 6 1 0 1 8
CHEK2-Related Cancer Susceptibility 0 2 0 4 1 0 1 6
Ovarian Neoplasms 0 17 3 2 0 0 1 6
Breast and colorectal cancer, susceptibility to 0 6 0 3 0 0 2 5
Familial cancer of breast; Li-Fraumeni syndrome 2; Osteosarcoma; Malignant tumor of prostate 0 34 0 3 1 0 0 4
PALB2-Related Disorders 0 1 0 2 0 0 3 4
Prostate cancer, somatic 0 1 0 0 0 0 4 4
Fanconi anemia, complementation group N 0 5 0 2 0 0 1 3
Ductal breast carcinoma 0 0 0 0 2 0 0 2
Hereditary cancer 0 2 0 0 2 0 0 2
Li-Fraumeni syndrome 0 3 0 1 1 0 0 2
Li-Fraumeni syndrome 2 0 0 0 2 0 0 0 2
Neoplasm of ovary 0 3 1 0 1 0 0 2
Nijmegen breakage syndrome-like disorder 0 0 1 1 0 0 0 2
Triple-Negative Breast Cancer Finding 0 3 0 0 2 0 0 2
Anaplastic ependymoma 0 0 0 0 1 0 0 1
Astrocytoma 0 0 0 0 0 0 1 1
Ataxia-telangiectasia, complementation group E 0 0 0 1 0 0 0 1
BRCA2-Related Disorders 0 0 1 0 0 0 0 1
Cancer of multiple types, susceptibility to 0 0 0 0 0 1 0 1
Colorectal cancer, susceptibility to 0 0 0 0 0 1 0 1
Dysgerminoma 0 0 0 0 0 1 0 1
Familial cancer of breast; Fanconi anemia, complementation group J 0 4 0 1 0 0 0 1
Familial cancer of breast; Fanconi anemia, complementation group N; Pancreatic cancer 3 0 18 0 1 0 0 0 1
Familial cancer of breast; Lung cancer; Malignant tumor of prostate; Carcinoma of colon 0 0 0 0 0 0 1 1
Fanconi anemia, complementation group D1 0 2 1 0 0 0 0 1
Fanconi anemia, complementation group J 0 3 0 0 1 0 0 1
Gastrointestinal carcinoma; Adrenocortical carcinoma 0 0 0 0 0 0 1 1
Glioma susceptibility 3 0 0 0 0 0 1 0 1
Hirschsprung Disease, Dominant 0 0 0 0 0 0 1 1
Hirschsprung disease 0 0 0 1 0 0 1 1
Malignant tumor of prostate 0 0 0 0 1 0 0 1
Medullary thyroid carcinoma 0 0 0 1 0 0 0 1
Microcephaly, normal intelligence and immunodeficiency 0 0 0 1 1 0 0 1
Microcephaly, normal intelligence and immunodeficiency; Aplastic anemia; Acute lymphoid leukemia 0 0 0 0 1 0 0 1
Multiple endocrine neoplasia 0 0 0 0 0 0 1 1
Multiple endocrine neoplasia, type 1 0 0 0 1 0 0 0 1
Multiple endocrine neoplasia, type 2 0 0 0 0 0 0 1 1
Multiple endocrine neoplasia, type 2a 0 0 0 1 0 0 1 1
Multiple endocrine neoplasia, type 2b 0 0 0 1 0 0 1 1
Multiple endocrine neoplasia, type 4 0 0 0 1 0 0 0 1
Osteosarcoma 0 0 0 0 0 0 1 1
Pancreatic cancer 2 0 0 0 0 0 1 0 1
Pancreatic cancer 4 0 0 0 0 0 1 0 1
Pancreatic cancer, susceptibility to 0 0 0 0 0 1 0 1
Pheochromocytoma 0 0 0 0 0 0 1 1
Pilocytic astrocytoma 0 0 0 0 1 0 0 1
Porokeratosis punctata palmaris et plantaris 0 0 1 0 0 0 0 1
Prostate cancer, susceptibility to 0 0 0 0 0 1 0 1
Renal adysplasia 0 0 0 0 0 0 1 1
T-cell prolymphocytic leukemia 0 1 0 1 0 0 0 1
Triple-negative breast cancer 0 0 0 0 0 1 0 1
Tumor susceptibility linked to germline BAP1 mutations 0 2 0 1 0 0 0 1

All variants with conflicting interpretations #

Total variants: 583
Download table as spreadsheet
HGVS dbSNP
NC_012920.1:m.15470T>C rs527236187
NM_000051.3(ATM):c.1215delT (p.Asn405Lysfs) rs1555069815
NM_000051.3(ATM):c.6095G>A (p.Arg2032Lys) rs139770721
NM_000051.3(ATM):c.6860G>C (p.Gly2287Ala) rs1800061
NM_000051.3(ATM):c.7271T>G (p.Val2424Gly) rs28904921
NM_000051.3(ATM):c.742C>T (p.Arg248Ter) rs730881336
NM_000051.3(ATM):c.7475T>G (p.Leu2492Arg) rs56399857
NM_000051.3(ATM):c.7638_7646delTAGAATTTC (p.Arg2547_Ser2549del) rs587776547
NM_000051.3(ATM):c.8147T>C (p.Val2716Ala) rs587782652
NM_000051.3(ATM):c.8711A>G (p.Glu2904Gly) rs786202826
NM_000059.3(BRCA2):c.10110G>A (p.Arg3370=) rs28897762
NM_000059.3(BRCA2):c.1011C>T (p.Asn337=) rs41293473
NM_000059.3(BRCA2):c.10234A>G (p.Ile3412Val) rs1801426
NM_000059.3(BRCA2):c.1114A>C (p.Asn372His) rs144848
NM_000059.3(BRCA2):c.1189C>T (p.Gln397Ter) rs760815829
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.145G>T (p.Glu49Ter) rs80358435
NM_000059.3(BRCA2):c.1733delG (p.Gly578Valfs) rs879255326
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.1818G>A (p.Pro606=) rs76844014
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.223G>C (p.Ala75Pro) rs28897701
NM_000059.3(BRCA2):c.231T>G (p.Thr77=) rs114446594
NM_000059.3(BRCA2):c.2743_2747delACTTG (p.Thr915Cysfs) rs786204752
NM_000059.3(BRCA2):c.2919G>A (p.Ser973=) rs45525041
NM_000059.3(BRCA2):c.2971A>G (p.Asn991Asp) rs1799944
NM_000059.3(BRCA2):c.3054G>A (p.Lys1018=) rs368404583
NM_000059.3(BRCA2):c.316+12A>G rs186419778
NM_000059.3(BRCA2):c.3264T>C (p.Pro1088=) rs36060526
NM_000059.3(BRCA2):c.3264dupT (p.Gln1089Serfs) rs80359380
NM_000059.3(BRCA2):c.3739delA (p.Ile1247Leufs) rs886040494
NM_000059.3(BRCA2):c.3869G>A (p.Cys1290Tyr) rs41293485
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.4584C>T (p.Ser1528=) rs80359788
NM_000059.3(BRCA2):c.4681C>A (p.His1561Asn) rs2219594
NM_000059.3(BRCA2):c.516+14C>T rs182828913
NM_000059.3(BRCA2):c.517-19C>T rs11571623
NM_000059.3(BRCA2):c.5195delT (p.Leu1732Profs) rs587779363
NM_000059.3(BRCA2):c.5199C>T (p.Ser1733=) rs28897734
NM_000059.3(BRCA2):c.5268A>G (p.Val1756=) rs199879914
NM_000059.3(BRCA2):c.5418A>G (p.Glu1806=) rs34351119
NM_000059.3(BRCA2):c.5616_5620delAGTAA (p.Lys1872Asnfs) rs80359525
NM_000059.3(BRCA2):c.5704G>A (p.Asp1902Asn) rs4987048
NM_000059.3(BRCA2):c.5744C>T (p.Thr1915Met) rs4987117
NM_000059.3(BRCA2):c.5946delT (p.Ser1982Argfs) rs80359550
NM_000059.3(BRCA2):c.5985C>T (p.Asn1995=) rs374620036
NM_000059.3(BRCA2):c.6100C>T (p.Arg2034Cys) rs1799954
NM_000059.3(BRCA2):c.658_659delGT (p.Val220Ilefs) rs80359604
NM_000059.3(BRCA2):c.68-7T>A rs81002830
NM_000059.3(BRCA2):c.7017G>C (p.Lys2339Asn) rs45574331
NM_000059.3(BRCA2):c.7319A>G (p.His2440Arg) rs4986860
NM_000059.3(BRCA2):c.7397C>T (p.Ala2466Val) rs169547
NM_000059.3(BRCA2):c.7413A>G (p.Thr2471=) rs138067005
NM_000059.3(BRCA2):c.7469T>C (p.Ile2490Thr) rs11571707
NM_000059.3(BRCA2):c.7626G>A (p.Thr2542=) rs61754138
NM_000059.3(BRCA2):c.771_775delTCAAA (p.Asn257Lysfs) rs80359671
NM_000059.3(BRCA2):c.7806-2A>T rs81002836
NM_000059.3(BRCA2):c.7979_7991delATGATACGGAAAT (p.Tyr2660Leufs) rs730881614
NM_000059.3(BRCA2):c.8460A>C (p.Val2820=) rs9590940
NM_000059.3(BRCA2):c.8487+19A>G rs11571743
NM_000059.3(BRCA2):c.8633-16C>G rs81002818
NM_000059.3(BRCA2):c.865A>C (p.Asn289His) rs766173
NM_000059.3(BRCA2):c.8830A>T (p.Ile2944Phe) rs4987047
NM_000059.3(BRCA2):c.8851G>A (p.Ala2951Thr) rs11571769
NM_000059.3(BRCA2):c.9154C>T (p.Arg3052Trp) rs45580035
NM_000059.3(BRCA2):c.9257-16T>C rs11571818
NM_000059.3(BRCA2):c.9270C>T (p.Phe3090=) rs587780873
NM_000059.3(BRCA2):c.9371A>T (p.Asn3124Ile) rs28897759
NM_000059.3(BRCA2):c.9501+1G>A rs397508058
NM_000059.3(BRCA2):c.9649-19G>A rs11571830
NM_000059.3(BRCA2):c.9720T>C (p.Val3240=) rs80359810
NM_000059.3(BRCA2):c.9730G>A (p.Val3244Ile) rs11571831
NM_000059.3(BRCA2):c.9843A>G (p.Pro3281=) rs11571832
NM_000059.3(BRCA2):c.9949C>T (p.Leu3317=) rs777488349
NM_000465.3(BARD1):c.1028C>T (p.Thr343Ile) rs201032007
NM_000465.3(BARD1):c.102G>A (p.Trp34Ter) rs879254280
NM_000465.3(BARD1):c.1053G>A (p.Thr351=) rs2070096
NM_000465.3(BARD1):c.1053G>T (p.Thr351=) rs2070096
NM_000465.3(BARD1):c.1059C>G (p.Pro353=) rs368649242
NM_000465.3(BARD1):c.1070T>C (p.Ile357Thr) rs587781555
NM_000465.3(BARD1):c.1127C>T (p.Ser376Leu) rs587782333
NM_000465.3(BARD1):c.1134G>C (p.Arg378Ser) rs2229571
NM_000465.3(BARD1):c.1147A>T (p.Met383Leu) rs761516178
NM_000465.3(BARD1):c.1325delC (p.Pro442Leufs) rs1060501287
NM_000465.3(BARD1):c.1347A>G (p.Gln449=) rs373257776
NM_000465.3(BARD1):c.1395+4G>T rs1025329798
NM_000465.3(BARD1):c.1409A>G (p.Asn470Ser) rs587781976
NM_000465.3(BARD1):c.1448A>G (p.His483Arg) rs587781874
NM_000465.3(BARD1):c.144G>A (p.Leu48=) rs151168457
NM_000465.3(BARD1):c.1473G>A (p.Gly491=) rs151080730
NM_000465.3(BARD1):c.1479A>G (p.Gln493=) rs375029767
NM_000465.3(BARD1):c.1491A>G (p.Pro497=) rs61754117
NM_000465.3(BARD1):c.1515G>T (p.Gly505=) rs139721211
NM_000465.3(BARD1):c.1518_1519invTG (p.Val507Met)
NM_000465.3(BARD1):c.1554C>T (p.Ala518=) rs139612775
NM_000465.3(BARD1):c.1568T>C (p.Val523Ala) rs587780017
NM_000465.3(BARD1):c.1569-9T>C rs753153934
NM_000465.3(BARD1):c.1586G>A (p.Arg529Gln) rs753479021
NM_000465.3(BARD1):c.1593C>T (p.Val531=) rs564894014
NM_000465.3(BARD1):c.160A>G (p.Thr54Ala) rs200254470
NM_000465.3(BARD1):c.1613G>A (p.Ser538Asn) rs370771157
NM_000465.3(BARD1):c.1652C>G (p.Ser551Ter) rs587781707
NM_000465.3(BARD1):c.1670G>C (p.Cys557Ser) rs28997576
NM_000465.3(BARD1):c.1694G>A (p.Arg565His) rs146946984
NM_000465.3(BARD1):c.1738G>A (p.Glu580Lys) rs35306212
NM_000465.3(BARD1):c.176_177delAG (p.Glu59Alafs) rs1057517589
NM_000465.3(BARD1):c.1835A>T (p.Asp612Val) rs201140528
NM_000465.3(BARD1):c.1877A>G (p.Asn626Ser) rs587781443
NM_000465.3(BARD1):c.1904-5G>A rs376639978
NM_000465.3(BARD1):c.1904-5G>T rs376639978
NM_000465.3(BARD1):c.1922G>A (p.Arg641Gln) rs752870879
NM_000465.3(BARD1):c.1932_1933delAT (p.Cys645Terfs) rs587782504
NM_000465.3(BARD1):c.1933T>C (p.Cys645Arg) rs2228456
NM_000465.3(BARD1):c.1935_1954dup20 (p.Glu652Valfs) rs587780024
NM_000465.3(BARD1):c.1972C>T (p.Arg658Cys) rs3738888
NM_000465.3(BARD1):c.1973G>A (p.Arg658His) rs377227840
NM_000465.3(BARD1):c.1977A>G (p.Arg659=) rs147215925
NM_000465.3(BARD1):c.1996C>T (p.Gln666Ter) rs730881422
NM_000465.3(BARD1):c.2002-2A>C rs876658260
NM_000465.3(BARD1):c.2002-2A>T rs876658260
NM_000465.3(BARD1):c.2082C>T (p.Leu694=) rs139620052
NM_000465.3(BARD1):c.2083G>A (p.Val695Ile) rs111367604
NM_000465.3(BARD1):c.2116A>G (p.Lys706Glu) rs149262370
NM_000465.3(BARD1):c.2148_2149delCA (p.Ile717Glnfs) rs786203811
NM_000465.3(BARD1):c.2179G>A (p.Asp727Asn) rs730881424
NM_000465.3(BARD1):c.2191C>G (p.Arg731Gly) rs76744638
NM_000465.3(BARD1):c.2212A>G (p.Ile738Val) rs61754118
NM_000465.3(BARD1):c.2280G>A (p.Ser760=) rs749959440
NM_000465.3(BARD1):c.2282G>A (p.Ser761Asn) rs142155101
NM_000465.3(BARD1):c.2300_2301delTG (p.Val767Aspfs) rs750413473
NM_000465.3(BARD1):c.252A>G (p.Pro84=) rs786202670
NM_000465.3(BARD1):c.253G>T (p.Val85Leu) rs370359540
NM_000465.3(BARD1):c.267G>A (p.Pro89=) rs756165637
NM_000465.3(BARD1):c.279A>G (p.Gln93=) rs370000575
NM_000465.3(BARD1):c.300A>G (p.Gln100=) rs977731407
NM_000465.3(BARD1):c.335G>A (p.Arg112Gln) rs587781591
NM_000465.3(BARD1):c.33G>T (p.Gln11His) rs143914387
NM_000465.3(BARD1):c.346C>T (p.His116Tyr) rs144856889
NM_000465.3(BARD1):c.348T>C (p.His116=) rs139934362
NM_000465.3(BARD1):c.353A>G (p.Asn118Ser) rs142864491
NM_000465.3(BARD1):c.365-8delT rs776103948
NM_000465.3(BARD1):c.382C>T (p.Pro128Ser) rs878854011
NM_000465.3(BARD1):c.44G>T (p.Arg15Leu) rs545107676
NM_000465.3(BARD1):c.465A>G (p.Arg155=) rs730881413
NM_000465.3(BARD1):c.521G>A (p.Ser174Asn) rs1277839212
NM_000465.3(BARD1):c.55G>T (p.Glu19Ter) rs752514155
NM_000465.3(BARD1):c.564T>G (p.Pro188=) rs748511245
NM_000465.3(BARD1):c.568G>A (p.Asp190Asn) rs369561166
NM_000465.3(BARD1):c.57G>A (p.Glu19=) rs730881406
NM_000465.3(BARD1):c.581G>A (p.Arg194Lys) rs181748854
NM_000465.3(BARD1):c.607G>A (p.Gly203Arg) rs730881415
NM_000465.3(BARD1):c.609A>C (p.Gly203=) rs28997574
NM_000465.3(BARD1):c.620A>G (p.Lys207Arg) rs34969857
NM_000465.3(BARD1):c.627_628delAA (p.Lys209Asnfs) rs864622223
NM_000465.3(BARD1):c.659T>C (p.Leu220Ser) rs138593305
NM_000465.3(BARD1):c.668A>G (p.Glu223Gly) rs145009419
NM_000465.3(BARD1):c.684A>G (p.Glu228=) rs780627045
NM_000465.3(BARD1):c.687T>C (p.Phe229=) rs756803590
NM_000465.3(BARD1):c.709C>G (p.Gln237Glu) rs587780035
NM_000465.3(BARD1):c.70C>T (p.Pro24Ser) rs1048108
NM_000465.3(BARD1):c.716T>A (p.Leu239Gln) rs200359745
NM_000465.3(BARD1):c.722C>G (p.Ser241Cys) rs3738885
NM_000465.3(BARD1):c.738A>G (p.Pro246=) rs587780859
NM_000465.3(BARD1):c.73G>C (p.Ala25Pro) rs751646468
NM_000465.3(BARD1):c.748T>G (p.Ser250Ala) rs570022823
NM_000465.3(BARD1):c.773T>C (p.Ile258Thr) rs146223579
NM_000465.3(BARD1):c.783A>G (p.Leu261=) rs201862973
NM_000465.3(BARD1):c.79G>C (p.Glu27Gln) rs587780037
NM_000465.3(BARD1):c.897T>C (p.Thr299=) rs559051241
NM_000465.3(BARD1):c.90T>A (p.Gly30=) rs150354152
NM_000465.3(BARD1):c.977A>G (p.Asn326Ser) rs779960429
NM_000465.4(BARD1):c.2075T>C (p.Ile692Thr) rs587782555
NM_000465.4(BARD1):c.365-9_365-8dup rs776103948
NM_000546.5(TP53):c.917G>A (p.Arg306Gln) rs1048095040
NM_002485.4(NBN):c.1262T>C (p.Leu421Ser) rs104895032
NM_005732.3(RAD50):c.2910C>T (p.Asp970=) rs148269640
NM_005732.3(RAD50):c.3879C>T (p.Ile1293=) rs28903094
NM_007194.3(CHEK2):c.1100delC (p.Thr367Metfs) rs555607708
NM_007194.3(CHEK2):c.1188delT (p.Val397Phefs) rs753159426
NM_007194.3(CHEK2):c.1254delT (p.Phe418Leufs) rs587780173
NM_007194.3(CHEK2):c.1260-6delA rs878854912
NM_007194.3(CHEK2):c.1263delT (p.Ser422Valfs) rs587780174
NM_007194.3(CHEK2):c.1337delA (p.Asn446Thrfs) rs876659639
NM_007194.3(CHEK2):c.1417_1428del12 (p.Ala473_Thr476del) rs876659422
NM_007194.3(CHEK2):c.1434delA (p.Glu479Lysfs) rs786202601
NM_007194.3(CHEK2):c.1489delG (p.Asp497Ilefs) rs774175654
NM_007194.3(CHEK2):c.1501delG (p.Glu501Argfs) rs1131691045
NM_007194.3(CHEK2):c.1567delC (p.Arg523Valfs) rs587782684
NM_007194.3(CHEK2):c.246_260delCCAAGAACCTGAGGA (p.Asp82_Glu86del) rs587780181
NM_007194.3(CHEK2):c.247delC (p.Gln83Lysfs) rs587782766
NM_007194.3(CHEK2):c.483_485delAGA (p.Glu161del) rs587782008
NM_007194.3(CHEK2):c.591delA (p.Val198Phefs) rs587782245
NM_007194.3(CHEK2):c.593-11_593-7delTTCTT rs863224414
NM_007194.3(CHEK2):c.846+4_846+7delAGTA rs764884641
NM_007194.3(CHEK2):c.860delA (p.Lys287Argfs) rs886039731
NM_007194.3(CHEK2):c.902delT (p.Leu301Trpfs) rs748005072
NM_007194.4(CHEK2):c.*18C>T rs17884403
NM_007194.4(CHEK2):c.*7T>C rs121908710
NM_007194.4(CHEK2):c.-4C>T rs374938148
NM_007194.4(CHEK2):c.-6G>A rs376995740
NM_007194.4(CHEK2):c.1008+13C>T rs193264230
NM_007194.4(CHEK2):c.1008+8A>G rs139986197
NM_007194.4(CHEK2):c.1023C>T (p.Asn341=) rs377668478
NM_007194.4(CHEK2):c.1039G>A (p.Asp347Asn) rs28909980
NM_007194.4(CHEK2):c.1096-4T>C rs587782840
NM_007194.4(CHEK2):c.1096del (p.Ile366Leufs) rs1555913941
NM_007194.4(CHEK2):c.1169A>C (p.Tyr390Ser) rs200928781
NM_007194.4(CHEK2):c.1169A>G (p.Tyr390Cys) rs200928781
NM_007194.4(CHEK2):c.1176G>A (p.Ala392=) rs142692907
NM_007194.4(CHEK2):c.1215C>A (p.Asn405Lys) rs587780171
NM_007194.4(CHEK2):c.1217G>A (p.Arg406His) rs200649225
NM_007194.4(CHEK2):c.1232G>A (p.Trp411Ter) rs371418985
NM_007194.4(CHEK2):c.1259+8A>G rs368388249
NM_007194.4(CHEK2):c.1260-10C>G rs730881706
NM_007194.4(CHEK2):c.1270T>C (p.Tyr424His) rs139366548
NM_007194.4(CHEK2):c.1283C>T (p.Ser428Phe) rs137853011
NM_007194.4(CHEK2):c.1287G>A (p.Glu429=) rs758102180
NM_007194.4(CHEK2):c.1312G>T (p.Asp438Tyr) rs200050883
NM_007194.4(CHEK2):c.1315C>T (p.Gln439Ter) rs778989252
NM_007194.4(CHEK2):c.132C>T (p.Ser44=) rs199715101
NM_007194.4(CHEK2):c.1343T>G (p.Ile448Ser) rs17886163
NM_007194.4(CHEK2):c.1368dup (p.Glu457Argfs) rs730881700
NM_007194.4(CHEK2):c.1407G>A (p.Val469=) rs17881378
NM_007194.4(CHEK2):c.1420C>T (p.Arg474Cys) rs540635787
NM_007194.4(CHEK2):c.1427C>T (p.Thr476Met) rs142763740
NM_007194.4(CHEK2):c.1452G>A (p.Pro484=) rs749156425
NM_007194.4(CHEK2):c.1461+1G>A rs886039629
NM_007194.4(CHEK2):c.1461+4G>A rs1057522400
NM_007194.4(CHEK2):c.1462-7C>G rs730881707
NM_007194.4(CHEK2):c.1489G>A (p.Asp497Asn) rs143965148
NM_007194.4(CHEK2):c.1497G>C (p.Leu499=) rs587780890
NM_007194.4(CHEK2):c.14C>T (p.Ser5Leu) rs201084748
NM_007194.4(CHEK2):c.1501G>A (p.Glu501Lys) rs17883172
NM_007194.4(CHEK2):c.1503G>A (p.Glu501=) rs1060502721
NM_007194.4(CHEK2):c.1510G>C (p.Glu504Gln) rs587782489
NM_007194.4(CHEK2):c.1525C>T (p.Pro509Ser) rs587780179
NM_007194.4(CHEK2):c.1526C>T (p.Pro509Leu) rs587782541
NM_007194.4(CHEK2):c.1534C>G (p.Leu512Val) rs17882942
NM_007194.4(CHEK2):c.1542+11T>A rs17881716
NM_007194.4(CHEK2):c.1542+6C>T rs1414780425
NM_007194.4(CHEK2):c.1555C>T (p.Arg519Ter) rs200432447
NM_007194.4(CHEK2):c.1568G>A (p.Arg523His) rs948928965
NM_007194.4(CHEK2):c.1590C>G (p.Ala530=) rs786201796
NM_007194.4(CHEK2):c.1593G>A (p.Glu531=) rs758555487
NM_007194.4(CHEK2):c.1597A>G (p.Thr533Ala) rs562517792
NM_007194.4(CHEK2):c.15G>A (p.Ser5=) rs145183886
NM_007194.4(CHEK2):c.1604G>A (p.Arg535His) rs544216926
NM_007194.4(CHEK2):c.190G>A (p.Glu64Lys) rs141568342
NM_007194.4(CHEK2):c.205C>T (p.Gln69Ter) rs768384031
NM_007194.4(CHEK2):c.215A>G (p.Tyr72Cys) rs769819013
NM_007194.4(CHEK2):c.252A>G (p.Glu84=) rs1805129
NM_007194.4(CHEK2):c.254C>T (p.Pro85Leu) rs17883862
NM_007194.4(CHEK2):c.320-5T>A rs121908700
NM_007194.4(CHEK2):c.335A>G (p.Asn112Ser) rs876660788
NM_007194.4(CHEK2):c.349A>G (p.Arg117Gly) rs28909982
NM_007194.4(CHEK2):c.381A>G (p.Glu127=) rs199929178
NM_007194.4(CHEK2):c.417C>T (p.Tyr139=) rs200917541
NM_007194.4(CHEK2):c.433C>T (p.Arg145Trp) rs137853007
NM_007194.4(CHEK2):c.444+19T>C rs200501745
NM_007194.4(CHEK2):c.444+1G>A rs121908698
NM_007194.4(CHEK2):c.444+1G>T rs121908698
NM_007194.4(CHEK2):c.444+2T>C rs560596101
NM_007194.4(CHEK2):c.470T>C (p.Ile157Thr) rs17879961
NM_007194.4(CHEK2):c.474A>C (p.Ala158=) rs745699485
NM_007194.4(CHEK2):c.480A>G (p.Ile160Met) rs575910805
NM_007194.4(CHEK2):c.499G>A (p.Gly167Arg) rs72552322
NM_007194.4(CHEK2):c.528G>C (p.Gly176=) rs587780889
NM_007194.4(CHEK2):c.538C>T (p.Arg180Cys) rs77130927
NM_007194.4(CHEK2):c.539G>A (p.Arg180His) rs137853009
NM_007194.4(CHEK2):c.541C>T (p.Arg181Cys) rs137853010
NM_007194.4(CHEK2):c.542G>A (p.Arg181His) rs121908701
NM_007194.4(CHEK2):c.556A>C (p.Asn186His) rs146198085
NM_007194.4(CHEK2):c.580A>T (p.Ser194Cys) rs786203042
NM_007194.4(CHEK2):c.58C>T (p.Gln20Ter) rs536907995
NM_007194.4(CHEK2):c.592+3A>T rs587782849
NM_007194.4(CHEK2):c.593-14C>T rs145754558
NM_007194.4(CHEK2):c.651A>G (p.Arg217=) rs774245273
NM_007194.4(CHEK2):c.683+1G>T rs786203650
NM_007194.4(CHEK2):c.683+9T>C rs1060504691
NM_007194.4(CHEK2):c.684-8C>T rs1555921406
NM_007194.4(CHEK2):c.715G>A (p.Glu239Lys) rs121908702
NM_007194.4(CHEK2):c.74T>C (p.Val25Ala) rs587780188
NM_007194.4(CHEK2):c.755G>A (p.Ser252Asn) rs587781379
NM_007194.4(CHEK2):c.793-1G>A rs730881687
NM_007194.4(CHEK2):c.847-10C>G rs745745105
NM_007194.4(CHEK2):c.847-17T>C rs199780411
NM_007194.4(CHEK2):c.85C>T (p.Gln29Ter) rs761494650
NM_007194.4(CHEK2):c.894T>G (p.Tyr298Ter) rs876659519
NM_007194.4(CHEK2):c.902T>A (p.Leu301Ter) rs886039739
NM_007194.4(CHEK2):c.907T>C (p.Leu303=) rs752359705
NM_007194.4(CHEK2):c.917G>C (p.Gly306Ala) rs587780192
NM_007294.3(BRCA1):c.1067A>G (p.Gln356Arg) rs1799950
NM_007294.3(BRCA1):c.1137T>G (p.Ile379Met) rs56128296
NM_007294.3(BRCA1):c.1140dupG (p.Lys381Glufs) rs876659327
NM_007294.3(BRCA1):c.114G>A (p.Lys38=) rs1800062
NM_007294.3(BRCA1):c.1504_1508delTTAAA (p.Leu502Alafs) rs80357888
NM_007294.3(BRCA1):c.1971A>G (p.Gln657=) rs28897679
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.2109A>G (p.Thr703=) rs4986844
NM_007294.3(BRCA1):c.21C>T (p.Arg7=) rs149402012
NM_007294.3(BRCA1):c.2232T>C (p.Ala744=) rs4986846
NM_007294.3(BRCA1):c.2311T>C (p.Leu771=) rs16940
NM_007294.3(BRCA1):c.2521C>T (p.Arg841Trp) rs1800709
NM_007294.3(BRCA1):c.2566T>C (p.Tyr856His) rs80356892
NM_007294.3(BRCA1):c.2596C>T (p.Arg866Cys) rs41286300
NM_007294.3(BRCA1):c.2612C>T (p.Pro871Leu) rs799917
NM_007294.3(BRCA1):c.2773A>C (p.Ile925Leu) rs4986847
NM_007294.3(BRCA1):c.2814A>G (p.Pro938=) rs80356851
NM_007294.3(BRCA1):c.3113A>G (p.Glu1038Gly) rs16941
NM_007294.3(BRCA1):c.3119G>A (p.Ser1040Asn) rs4986852
NM_007294.3(BRCA1):c.3228_3229delAG (p.Gly1077Alafs) rs80357635
NM_007294.3(BRCA1):c.3548A>G (p.Lys1183Arg) rs16942
NM_007294.3(BRCA1):c.3756_3759delGTCT (p.Ser1253Argfs) rs80357868
NM_007294.3(BRCA1):c.4039A>G (p.Arg1347Gly) rs28897689
NM_007294.3(BRCA1):c.4065_4068delTCAA (p.Asn1355Lysfs) rs80357508
NM_007294.3(BRCA1):c.4096+1G>A rs80358178
NM_007294.3(BRCA1):c.4113G>A (p.Gly1371=) rs147448807
NM_007294.3(BRCA1):c.4183C>T (p.Gln1395Ter) rs80357260
NM_007294.3(BRCA1):c.4308T>C (p.Ser1436=) rs1060915
NM_007294.3(BRCA1):c.4357+17A>G rs80358180
NM_007294.3(BRCA1):c.441+17delT rs730881449
NM_007294.3(BRCA1):c.442-?_547+?(2)
NM_007294.3(BRCA1):c.4812A>G (p.Gln1604=) rs28897693
NM_007294.3(BRCA1):c.4837A>G (p.Ser1613Gly) rs1799966
NM_007294.3(BRCA1):c.4956G>A (p.Met1652Ile) rs1799967
NM_007294.3(BRCA1):c.4987-20A>G rs80358035
NM_007294.3(BRCA1):c.4992C>T (p.Leu1664=) rs142459158
NM_007294.3(BRCA1):c.5075-1G>A rs1800747
NM_007294.3(BRCA1):c.5150delT (p.Phe1717Serfs) rs80357720
NM_007294.3(BRCA1):c.5266dupC (p.Gln1756Profs) rs397507247
NM_007294.3(BRCA1):c.5278-14C>G rs80358105
NM_007294.3(BRCA1):c.5406+8T>C rs55946644
NM_007294.3(BRCA1):c.5468-10C>A rs8176316
NM_007294.3(BRCA1):c.5503C>T (p.Arg1835Ter) rs41293465
NM_007294.3(BRCA1):c.557C>A (p.Ser186Tyr) rs55688530
NM_007294.3(BRCA1):c.68_69delAG (p.Glu23Valfs) rs386833395
NM_007294.3(BRCA1):c.75C>T (p.Pro25=) rs80356839
NM_007294.3(BRCA1):c.765G>A (p.Glu255=) rs62625299
NM_007294.3(BRCA1):c.807G>A (p.Leu269=) rs149867679
NM_007294.3(BRCA1):c.81-13C>G rs56328013
NM_007294.3(BRCA1):c.81-14C>T rs80358006
NM_007294.3(BRCA1):c.828A>G (p.Thr276=) rs186274774
NM_020630.5(RET):c.2372A>T (p.Tyr791Phe) rs77724903
NM_024675.3(PALB2):c.1000T>G (p.Tyr334Asp) rs202241382
NM_024675.3(PALB2):c.1001A>G (p.Tyr334Cys) rs200620434
NM_024675.3(PALB2):c.1010T>C (p.Leu337Ser) rs45494092
NM_024675.3(PALB2):c.1027C>T (p.Gln343Ter) rs180177097
NM_024675.3(PALB2):c.1042C>A (p.Gln348Lys) rs375699023
NM_024675.3(PALB2):c.1042C>T (p.Gln348Ter) rs375699023
NM_024675.3(PALB2):c.1054G>C (p.Glu352Gln) rs201035780
NM_024675.3(PALB2):c.1059delA (p.Lys353Asnfs) rs730881872
NM_024675.3(PALB2):c.1103A>G (p.Asn368Ser) rs1060502799
NM_024675.3(PALB2):c.1137G>A (p.Lys379=) rs1060504712
NM_024675.3(PALB2):c.1163dupC (p.Leu389Serfs) rs869312772
NM_024675.3(PALB2):c.1189A>T (p.Thr397Ser) rs367578415
NM_024675.3(PALB2):c.1194G>A (p.Val398=) rs61755173
NM_024675.3(PALB2):c.11C>T (p.Pro4Leu) rs45619737
NM_024675.3(PALB2):c.1250C>A (p.Ser417Tyr) rs45510998
NM_024675.3(PALB2):c.1273G>A (p.Val425Met) rs576081828
NM_024675.3(PALB2):c.1281T>C (p.Ala427=) rs138697796
NM_024675.3(PALB2):c.1288C>T (p.Gln430Ter) rs1555461358
NM_024675.3(PALB2):c.12T>C (p.Pro4=) rs567706422
NM_024675.3(PALB2):c.12dupT (p.Pro5Serfs) rs879254062
NM_024675.3(PALB2):c.1347A>G (p.Lys449=) rs587780205
NM_024675.3(PALB2):c.1366G>T (p.Glu456Ter) rs1060502785
NM_024675.3(PALB2):c.1379A>G (p.Gln460Arg) rs749494645
NM_024675.3(PALB2):c.13C>T (p.Pro5Ser) rs377085677
NM_024675.3(PALB2):c.1401C>T (p.Gly467=) rs1555461301
NM_024675.3(PALB2):c.1419A>C (p.Pro473=) rs62625275
NM_024675.3(PALB2):c.1424dupC (p.Arg476Lysfs) rs1555461294
NM_024675.3(PALB2):c.1470C>T (p.Pro490=) rs45612837
NM_024675.3(PALB2):c.1471G>A (p.Ala491Thr) rs577969558
NM_024675.3(PALB2):c.1478C>T (p.Pro493Leu) rs770965402
NM_024675.3(PALB2):c.1490delA (p.Asn497Metfs) rs1555461253
NM_024675.3(PALB2):c.1492G>T (p.Asp498Tyr) rs75023630
NM_024675.3(PALB2):c.149A>C (p.Lys50Thr) rs763598472
NM_024675.3(PALB2):c.1506G>C (p.Lys502Asn) rs371142570
NM_024675.3(PALB2):c.1538delC (p.Thr513Lysfs) rs879253892
NM_024675.3(PALB2):c.1544A>G (p.Lys515Arg) rs515726072
NM_024675.3(PALB2):c.1564C>T (p.Pro522Ser) rs373876101
NM_024675.3(PALB2):c.1572A>G (p.Ser524=) rs45472400
NM_024675.3(PALB2):c.1592delT (p.Leu531Cysfs) rs180177102
NM_024675.3(PALB2):c.1606C>T (p.Leu536=) rs151162255
NM_024675.3(PALB2):c.1610C>T (p.Ser537Leu) rs142103232
NM_024675.3(PALB2):c.1611G>A (p.Ser537=) rs730881874
NM_024675.3(PALB2):c.161A>G (p.Glu54Gly) rs730881898
NM_024675.3(PALB2):c.1623G>A (p.Arg541=) rs745665968
NM_024675.3(PALB2):c.1641C>T (p.Thr547=) rs564514783
NM_024675.3(PALB2):c.1643C>T (p.Ser548Leu) rs1241049372
NM_024675.3(PALB2):c.1676A>G (p.Gln559Arg) rs152451
NM_024675.3(PALB2):c.1697G>A (p.Arg566His) rs144617793
NM_024675.3(PALB2):c.1699C>T (p.His567Tyr) rs370422990
NM_024675.3(PALB2):c.172_175delTTGT (p.Gln60Argfs) rs180177143
NM_024675.3(PALB2):c.1756G>A (p.Asp586Asn) rs587781954
NM_024675.3(PALB2):c.1767G>A (p.Thr589=) rs769849072
NM_024675.3(PALB2):c.1792C>T (p.Leu598=) rs746702349
NM_024675.3(PALB2):c.1794G>A (p.Leu598=) rs182494675
NM_024675.3(PALB2):c.1810C>T (p.Leu604=) rs144015319
NM_024675.3(PALB2):c.1881G>T (p.Val627=) rs139362268
NM_024675.3(PALB2):c.18G>T (p.Gly6=) rs587782462
NM_024675.3(PALB2):c.1924delA (p.Met642Cysfs) rs730881865
NM_024675.3(PALB2):c.1935G>A (p.Glu645=) rs141707455
NM_024675.3(PALB2):c.1947dupA (p.Glu650Argfs) rs515726075
NM_024675.3(PALB2):c.194C>T (p.Pro65Leu) rs62625272
NM_024675.3(PALB2):c.1955G>A (p.Ser652Asn) rs587781818
NM_024675.3(PALB2):c.195G>A (p.Pro65=) rs751176316
NM_024675.3(PALB2):c.196C>T (p.Gln66Ter) rs180177083
NM_024675.3(PALB2):c.2014G>C (p.Glu672Gln) rs45532440
NM_024675.3(PALB2):c.2027T>C (p.Ile676Thr) rs200875161
NM_024675.3(PALB2):c.2067G>A (p.Ser689=) rs371149159
NM_024675.3(PALB2):c.2100A>T (p.Ser700=) rs757145884
NM_024675.3(PALB2):c.210A>G (p.Ser70=) rs786202650
NM_024675.3(PALB2):c.212-10delT rs766487430
NM_024675.3(PALB2):c.2130G>A (p.Thr710=) rs774049060
NM_024675.3(PALB2):c.2135C>T (p.Ala712Val) rs141458731
NM_024675.3(PALB2):c.2156delC (p.Pro719Leufs) rs876660193
NM_024675.3(PALB2):c.2163A>C (p.Thr721=) rs587781105
NM_024675.3(PALB2):c.2167A>T (p.Met723Leu) rs876660336
NM_024675.3(PALB2):c.2208C>A (p.Ala736=) rs369113809
NM_024675.3(PALB2):c.2228A>G (p.Tyr743Cys) rs141749524
NM_024675.3(PALB2):c.2230G>A (p.Glu744Lys) rs62625278
NM_024675.3(PALB2):c.2244A>G (p.Thr748=) rs750048627
NM_024675.3(PALB2):c.2256A>G (p.Gly752=) rs147120218
NM_024675.3(PALB2):c.2258G>A (p.Arg753Gln) rs587778586
NM_024675.3(PALB2):c.2267_2283dup (p.His762Alafs) rs755471995
NM_024675.3(PALB2):c.226A>G (p.Ile76Val) rs541028076
NM_024675.3(PALB2):c.226delA (p.Ile76Tyrfs) rs587782443
NM_024675.3(PALB2):c.2277A>G (p.Gln759=) rs786202524
NM_024675.3(PALB2):c.2288_2291delTGAA (p.Leu763Terfs) rs876659571
NM_024675.3(PALB2):c.2289G>C (p.Leu763Phe) rs373478248
NM_024675.3(PALB2):c.2323C>T (p.Gln775Ter) rs180177111
NM_024675.3(PALB2):c.2329G>A (p.Asp777Asn) rs148026749
NM_024675.3(PALB2):c.232G>A (p.Val78Ile) rs515726085
NM_024675.3(PALB2):c.2336C>G (p.Ser779Ter) rs764509489
NM_024675.3(PALB2):c.2360C>T (p.Thr787Ile) rs201042302
NM_024675.3(PALB2):c.2365C>T (p.Leu789=) rs145805054
NM_024675.3(PALB2):c.2368C>T (p.Gln790Ter) rs886039480
NM_024675.3(PALB2):c.2379C>T (p.Gly793=) rs377626805
NM_024675.3(PALB2):c.2386G>T (p.Gly796Ter) rs180177112
NM_024675.3(PALB2):c.2391delA (p.Gln797Hisfs) rs1555460360
NM_024675.3(PALB2):c.23C>T (p.Pro8Leu) rs150390726
NM_024675.3(PALB2):c.2411_2412delCT (p.Ser804Cysfs) rs747148023
NM_024675.3(PALB2):c.2417C>T (p.Pro806Leu) rs45464991
NM_024675.3(PALB2):c.2438T>C (p.Ile813Thr) rs763191051
NM_024675.3(PALB2):c.2442G>A (p.Glu814=) rs140776736
NM_024675.3(PALB2):c.2456_2463delAAGAAAAT (p.Lys819Thrfs) rs1555460325
NM_024675.3(PALB2):c.2469C>G (p.Leu823=) rs515726087
NM_024675.3(PALB2):c.2474G>C (p.Arg825Thr) rs146218439
NM_024675.3(PALB2):c.2478C>T (p.Asn826=) rs786201885
NM_024675.3(PALB2):c.2481A>T (p.Thr827=) rs876658885
NM_024675.3(PALB2):c.2505C>T (p.Ser835=) rs756502783
NM_024675.3(PALB2):c.2506G>A (p.Val836Ile) rs536644825
NM_024675.3(PALB2):c.2509G>A (p.Glu837Lys) rs587778587
NM_024675.3(PALB2):c.2559C>T (p.Gly853=) rs180177115
NM_024675.3(PALB2):c.2561A>G (p.Asn854Ser) rs146455175
NM_024675.3(PALB2):c.2571G>A (p.Leu857=) rs587780821
NM_024675.3(PALB2):c.2576C>A (p.Ser859Ter) rs1057517539
NM_024675.3(PALB2):c.2586+10A>G rs373321719
NM_024675.3(PALB2):c.2587-?_2748+?del
NM_024675.3(PALB2):c.2590C>T (p.Pro864Ser) rs45568339
NM_024675.3(PALB2):c.2607C>A (p.Ser869=) rs45542234
NM_024675.3(PALB2):c.2607C>T (p.Ser869=) rs45542234
NM_024675.3(PALB2):c.2608G>A (p.Val870Ile) rs376641234
NM_024675.3(PALB2):c.2674G>A (p.Glu892Lys) rs45476495
NM_024675.3(PALB2):c.2686dupT (p.Ser896Phefs) rs1555459954
NM_024675.3(PALB2):c.2725C>G (p.Leu909Val) rs1060502739
NM_024675.3(PALB2):c.2733C>A (p.Thr911=) rs1555459927
NM_024675.3(PALB2):c.2742C>T (p.Phe914=) rs115759702
NM_024675.3(PALB2):c.2743G>A (p.Ala915Thr) rs374736398
NM_024675.3(PALB2):c.2747_2748+4delAGGTAA rs786203892
NM_024675.3(PALB2):c.2748+1G>T rs753153576
NM_024675.3(PALB2):c.2749-18C>T rs182194007
NM_024675.3(PALB2):c.2773G>C (p.Val925Leu) rs180177125
NM_024675.3(PALB2):c.2794G>A (p.Val932Met) rs45624036
NM_024675.3(PALB2):c.2816T>G (p.Leu939Trp) rs45478192
NM_024675.3(PALB2):c.2834+18A>T rs114491776
NM_024675.3(PALB2):c.2834+1G>T rs587776419
NM_024675.3(PALB2):c.2851T>C (p.Ser951Pro) rs149522412
NM_024675.3(PALB2):c.2878delC (p.Leu960Tyrfs) rs1064795824
NM_024675.3(PALB2):c.2881C>T (p.Leu961=) rs61755166
NM_024675.3(PALB2):c.2897T>C (p.Ile966Thr) rs587780214
NM_024675.3(PALB2):c.2903C>G (p.Ala968Gly) rs369132015
NM_024675.3(PALB2):c.292A>G (p.Ile98Val) rs587782831
NM_024675.3(PALB2):c.2959_2966dup (p.Glu990Asnfs) rs875989792
NM_024675.3(PALB2):c.2962C>T (p.Gln988Ter) rs118203999
NM_024675.3(PALB2):c.2964A>G (p.Gln988=) rs777244673
NM_024675.3(PALB2):c.2974_2975dupAT (p.Met992Ilefs) rs1555459520
NM_024675.3(PALB2):c.2982dupT (p.Ala995Cysfs) rs180177127
NM_024675.3(PALB2):c.298C>T (p.Leu100Phe) rs61756147
NM_024675.3(PALB2):c.2993G>A (p.Gly998Glu) rs45551636
NM_024675.3(PALB2):c.2996+17T>C rs180177128
NM_024675.3(PALB2):c.2996+9delA rs769414858
NM_024675.3(PALB2):c.3054G>C (p.Glu1018Asp) rs183489969
NM_024675.3(PALB2):c.3103A>G (p.Ile1035Val) rs863224783
NM_024675.3(PALB2):c.3113+5G>C rs876659463
NM_024675.3(PALB2):c.3113G>A (p.Trp1038Ter) rs180177132
NM_024675.3(PALB2):c.3114-6T>C rs1064794886
NM_024675.3(PALB2):c.3116delA (p.Asn1039Ilefs) rs180177133
NM_024675.3(PALB2):c.3201+1G>C rs587776423
NM_024675.3(PALB2):c.3202-1G>A rs515726111
NM_024675.3(PALB2):c.3202-8G>A rs367979106
NM_024675.3(PALB2):c.3202-8G>T rs367979106
NM_024675.3(PALB2):c.3239_3240delAA (p.Lys1080Argfs) rs879254060
NM_024675.3(PALB2):c.3244_3245delAG (p.Ser1082Terfs) rs886039503
NM_024675.3(PALB2):c.3249G>C (p.Glu1083Asp) rs147045425
NM_024675.3(PALB2):c.3251C>T (p.Ser1084Leu) rs62625271
NM_024675.3(PALB2):c.3252G>A (p.Ser1084=) rs141570833
NM_024675.3(PALB2):c.3256C>T (p.Arg1086Ter) rs587776527
NM_024675.3(PALB2):c.3256delC (p.Arg1086Glufs) rs1057517600
NM_024675.3(PALB2):c.3257G>A (p.Arg1086Gln) rs146377793
NM_024675.3(PALB2):c.3271C>T (p.Gln1091Ter) rs864622138
NM_024675.3(PALB2):c.3286_3289delAACCinsGTTAATGA (p.Asn1096Valfs) rs587782337
NM_024675.3(PALB2):c.3297G>A (p.Thr1099=) rs45565738
NM_024675.3(PALB2):c.3300T>G (p.Thr1100=) rs45516100
NM_024675.3(PALB2):c.3307G>A (p.Val1103Met) rs201657283
NM_024675.3(PALB2):c.3350+4A>G rs180177136
NM_024675.3(PALB2):c.3350+5G>A rs587782566
NM_024675.3(PALB2):c.3350G>A (p.Arg1117Lys) rs876659859
NM_024675.3(PALB2):c.3362delG (p.Gly1121Valfs) rs515726117
NM_024675.3(PALB2):c.3426_3429delACTT (p.Leu1142Phefs) rs587776424
NM_024675.3(PALB2):c.3428T>A (p.Leu1143His) rs62625284
NM_024675.3(PALB2):c.344G>T (p.Gly115Val) rs145598272
NM_024675.3(PALB2):c.3491G>A (p.Trp1164Ter) rs879254113
NM_024675.3(PALB2):c.3492G>A (p.Trp1164Ter) rs587782217
NM_024675.3(PALB2):c.3495G>A (p.Ser1165=) rs45439097
NM_024675.3(PALB2):c.3507_3508delTC (p.His1170Phefs) rs587776428
NM_024675.3(PALB2):c.3508C>T (p.His1170Tyr) rs200283306
NM_024675.3(PALB2):c.3525A>G (p.Gln1175=) rs763513849
NM_024675.3(PALB2):c.3549C>G (p.Tyr1183Ter) rs118203998
NM_024675.3(PALB2):c.371C>T (p.Thr124Ile) rs45457297
NM_024675.3(PALB2):c.398G>A (p.Ser133Asn) rs864622411
NM_024675.3(PALB2):c.3G>A (p.Met1Ile) rs1057517585
NM_024675.3(PALB2):c.400G>A (p.Asp134Asn) rs139555085
NM_024675.3(PALB2):c.475G>T (p.Glu159Ter) rs1555461788
NM_024675.3(PALB2):c.48+1G>C rs515726118
NM_024675.3(PALB2):c.48+7G>C rs190626072
NM_024675.3(PALB2):c.495C>T (p.Gly165=) rs200937538
NM_024675.3(PALB2):c.503C>A (p.Ser168Ter) rs515726122
NM_024675.3(PALB2):c.508A>G (p.Arg170Gly) rs864622622
NM_024675.3(PALB2):c.53A>G (p.Lys18Arg) rs138789658
NM_024675.3(PALB2):c.548delG (p.Ser183Ilefs) rs1064795953
NM_024675.3(PALB2):c.601dupA (p.Ser201Lysfs) rs886041220
NM_024675.3(PALB2):c.629C>T (p.Pro210Leu) rs57605939
NM_024675.3(PALB2):c.62T>G (p.Leu21Ter) rs769240800
NM_024675.3(PALB2):c.656A>G (p.Asp219Gly) rs45594034
NM_024675.3(PALB2):c.660T>C (p.Ser220=) rs571762192
NM_024675.3(PALB2):c.661G>A (p.Val221Ile) rs1060502773
NM_024675.3(PALB2):c.707dupT (p.Leu237Profs) rs876658192
NM_024675.3(PALB2):c.718C>A (p.Pro240Thr) rs757567654
NM_024675.3(PALB2):c.721A>G (p.Asn241Asp) rs113217267
NM_024675.3(PALB2):c.727A>C (p.Thr243Pro) rs1060502747
NM_024675.3(PALB2):c.734C>T (p.Ala245Val) rs571063157
NM_024675.3(PALB2):c.758dupT (p.Ser254Ilefs) rs515726126
NM_024675.3(PALB2):c.759delA (p.Ser254Glnfs) rs1060499830
NM_024675.3(PALB2):c.765T>C (p.Asp255=) rs45465299
NM_024675.3(PALB2):c.769G>A (p.Gly257Ser) rs587780824
NM_024675.3(PALB2):c.801_802dup (p.Lys268Ilefs) rs1555461618
NM_024675.3(PALB2):c.807T>C (p.Gly269=) rs180177093
NM_024675.3(PALB2):c.829G>A (p.Asp277Asn) rs778309339
NM_024675.3(PALB2):c.84C>T (p.Tyr28=) rs761533286
NM_024675.3(PALB2):c.860dupT (p.Ser288Lysfs) rs864622301
NM_024675.3(PALB2):c.892G>A (p.Val298Ile) rs1060502765
NM_024675.3(PALB2):c.899C>T (p.Thr300Ile) rs528541334
NM_024675.3(PALB2):c.909C>T (p.Leu303=) rs145788619
NM_024675.3(PALB2):c.925A>G (p.Ile309Val) rs3809683
NM_024675.3(PALB2):c.928A>G (p.Ser310Gly) rs45561331
NM_024675.3(PALB2):c.940C>T (p.Gln314Ter) rs786203821
NM_024675.3(PALB2):c.94C>G (p.Leu32Val) rs151316635
NM_024675.3(PALB2):c.950C>T (p.Thr317Ile) rs45548638
NM_024675.3(PALB2):c.999C>T (p.Thr333=) rs180177096
NM_032043.2(BRIP1):c.1240C>T (p.Gln414Ter) rs368796923
NM_032043.2(BRIP1):c.2990_2993dupCAAA (p.Lys998Asnfs) rs771028677
NM_032043.2(BRIP1):c.3009A>G (p.Ser1003=) rs751823379
NM_032043.2(BRIP1):c.3072delG (p.Ser1025Hisfs) rs1342519012
NM_032043.2(BRIP1):c.3209C>A (p.Ser1070Ter) rs777213170
NM_032043.2(BRIP1):c.689C>T (p.Ser230Leu) rs759031349
PALB2:c.2515-1G>T rs587776417

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