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Items: 1 to 100 of 1658

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr3:45921375-50787353
GRCh38:
Chr3:45879883-50749922
ALS2CL, AMIGO3, AMT, APEH, ARIH2, ARIH2OS, ATRIP, ATRIP-TREX1, BSN, BSN-DT, C3orf18, C3orf62, C3orf84, CACNA2D2, CAMKV, CAMP, CCDC12, CCDC51, CCDC71, CCR1, CCR2, CCR3, CCR5, CCR5AS, CCR9, CCRL2, CDC25A, CDHR4, CELSR3, CISH, COL7A1, CSPG5, CXCR6, CYB561D2, DAG1, DALRD3, DHX30, DOCK3, ELP6, FAM240A, FBXW12, FYCO1, GMPPB, GNAI2, GNAT1, GPX1, HEMK1, HYAL1, HYAL2, HYAL3, IFRD2, IHO1, IMPDH2, INKA1, IP6K1, IP6K2, KIF9, KIF9-AS1, KLHDC8B, KLHL18, LAMB2, LINC02009, LINC02019, LINC02585, LOC110121200, LOC111591507, LOC112935943, LOC112935944, LOC112935945, LOC112935946, LOC115995510, LOC119086083, LOC121009664, LOC121009665, LOC121009666, LOC121009667, LOC121009668, LOC121009669, LOC121009670, LOC121009671, LOC121725144, LOC122889078, LOC122889079, LOC122889080, LOC122889081, LOC122889082, LOC122889083, LOC122889084, LOC122889085, LOC122889086, LOC122889087, LOC122889088, LRRC2, LRRC2-AS1, LSMEM2, LTF, LZTFL1, MAP4, MAPKAPK3, MIR1226, MIR191, MIR2115, MIR425, MIR4271, MIR4443, MIR4787, MIR4793, MIR5193, MIR566, MIR5787, MIR6823, MIR6824, MIR6872, MIR6890, MIR711, MON1A, MST1, MST1R, NME6, MYL3, NAA80, NBEAL2, NCKIPSD, NDUFAF3, NICN1, NPRL2, P4HTM, PFKFB4, PLXNB1, PRKAR2A, PRKAR2A-AS1, PRSS50, PTH1R, PTPN23, QARS1, QRICH1, RASSF1, RASSF1-AS1, RBM5, RBM5-AS1, RBM6, RHOA, RNF123, RTP3, SCAP, SEMA3B, SEMA3B-AS1, SEMA3F, SEMA3F-AS1, SETD2, SHISA5, SLC25A20, SLC26A6, SLC38A3, SMARCC1, SNORA94, SNORD13J, SNORD146, SPINK8, TCTA, TDGF1, TMA7, TMEM115, TMEM89, TMIE, TRAIP, TREX1, TUSC2, UBA7, UCN2, UQCRC1, USP19, USP4, WDR6, XCR1, ZMYND10, ZNF589
See casesPathogenic
(Sep 23, 2013)
no assertion criteria providedVCV000144168
2.
GRCh37:
Chr3:48600388-48624921
GRCh38:
Chr3:48562955-48587488
COL7A1, UCN2, MIR711Ductal breast carcinomaUncertain significance
(Jul 20, 2015)
no assertion criteria providedVCV000221382
3.
GRCh37:
Chr3:48601569
GRCh38:
Chr3:48564136
COL7A1Dystrophic epidermolysis bullosaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000903069
4.
GRCh37:
Chr3:48601623
GRCh38:
Chr3:48564190
COL7A1Dystrophic epidermolysis bullosaBenign
(Jan 12, 2018)
criteria provided, single submitterVCV000903070
5.
GRCh37:
Chr3:48601677
GRCh38:
Chr3:48564244
COL7A1Dystrophic epidermolysis bullosaUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000899446
6.
GRCh37:
Chr3:48601677
GRCh38:
Chr3:48564244
COL7A1Dystrophic epidermolysis bullosaLikely benign
(Jan 13, 2018)
criteria provided, single submitterVCV000899445
7.
GRCh37:
Chr3:48601734
GRCh38:
Chr3:48564301
COL7A1Dystrophic epidermolysis bullosaUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000345787
8.
GRCh37:
Chr3:48601752
GRCh38:
Chr3:48564319
COL7A1Dystrophic epidermolysis bullosaUncertain significance
(Apr 27, 2017)
criteria provided, single submitterVCV000899447
9.
GRCh37:
Chr3:48601774
GRCh38:
Chr3:48564341
COL7A1Dystrophic epidermolysis bullosaBenign
(Jan 13, 2018)
criteria provided, single submitterVCV000345788
10.
GRCh37:
Chr3:48601799
GRCh38:
Chr3:48564366
COL7A1Dystrophic epidermolysis bullosaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000345789
11.
GRCh37:
Chr3:48601858
GRCh38:
Chr3:48564425
COL7A1not provided, Epidermolysis bullosa dystrophica inversa, autosomal recessiveLikely benign
(Dec 2, 2020)
criteria provided, single submitterVCV000729714
12.
GRCh37:
Chr3:48602206
GRCh38:
Chr3:48564773
COL7A1not providedLikely benign
(Sep 9, 2020)
criteria provided, single submitterVCV001096405
13.
GRCh37:
Chr3:48602217
GRCh38:
Chr3:48564784
COL7A1Epidermolysis bullosa dystrophica inversa, autosomal recessiveUncertain significance
(Nov 14, 2020)
no assertion criteria providedVCV000989691
14.
GRCh37:
Chr3:48602231
GRCh38:
Chr3:48564798
COL7A1Q2935*Epidermolysis bullosa pruriginosaPathogeniccriteria provided, single submitterVCV000998085
15.
GRCh37:
Chr3:48602234
GRCh38:
Chr3:48564801
COL7A1V2934FEpidermolysis bullosa dystrophica inversa, autosomal recessiveUncertain significance
(Oct 30, 2020)
no assertion criteria providedVCV000989692
16.
GRCh37:
Chr3:48602243
GRCh38:
Chr3:48564810
COL7A1P2931Snot providedLikely benign
(Dec 3, 2020)
criteria provided, single submitterVCV000721614
17.
GRCh37:
Chr3:48602251
GRCh38:
Chr3:48564818
COL7A1R2928HDystrophic epidermolysis bullosaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000899448
18.
GRCh37:
Chr3:48602255
GRCh38:
Chr3:48564822
COL7A1R2927CDystrophic epidermolysis bullosaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000899449
19.
GRCh37:
Chr3:48602274
GRCh38:
Chr3:48564841
COL7A1not providedLikely benign
(Jul 23, 2020)
criteria provided, single submitterVCV001143531
20.
GRCh37:
Chr3:48602317
GRCh38:
Chr3:48564884
COL7A1P2906fsDystrophic epidermolysis bullosaPathogenic
(Nov 26, 2018)
criteria provided, single submitterVCV001047954
21.
GRCh37:
Chr3:48602325
GRCh38:
Chr3:48564892
COL7A1not providedLikely benign
(Aug 10, 2020)
criteria provided, single submitterVCV001146579
22.
GRCh37:
Chr3:48602325
GRCh38:
Chr3:48564892
COL7A1not providedLikely benign
(Aug 20, 2019)
criteria provided, single submitterVCV001114241
23.
GRCh37:
Chr3:48602350
GRCh38:
Chr3:48564917
COL7A1R2895QRecessive dystrophic epidermolysis bullosa, Dystrophic epidermolysis bullosanot providedno assertion providedVCV001177512
24.
GRCh37:
Chr3:48602355
GRCh38:
Chr3:48564922
COL7A1Y2893*not providedPathogenic
(Aug 24, 2019)
criteria provided, single submitterVCV000933251
25.
GRCh37:
Chr3:48602370
GRCh38:
Chr3:48564937
COL7A1not providedLikely benign
(Aug 27, 2019)
criteria provided, single submitterVCV001083568
26.
GRCh37:
Chr3:48602373
GRCh38:
Chr3:48564940
COL7A1not providedLikely benign
(Jun 19, 2020)
criteria provided, single submitterVCV001099431
27.
GRCh37:
Chr3:48602399
GRCh38:
Chr3:48564966
COL7A1P2879Snot providedUncertain significance
(Oct 19, 2020)
criteria provided, single submitterVCV001062028
28.
GRCh37:
Chr3:48602403
GRCh38:
Chr3:48564970
COL7A1Dystrophic epidermolysis bullosaUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000345790
29.
GRCh37:
Chr3:48602519
GRCh38:
Chr3:48565086
COL7A1not providedBenign
(Mar 8, 2019)
criteria provided, single submitterVCV001291987
30.
GRCh37:
Chr3:48602523-48602524
GRCh38:
Chr3:48565090-48565091
COL7A1not specified, not providedBenign/Likely benign
(Dec 5, 2020)
criteria provided, multiple submitters, no conflictsVCV000255115
31.
GRCh37:
Chr3:48602551
GRCh38:
Chr3:48565118
COL7A1D2871NDystrophic epidermolysis bullosaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000900574
32.
GRCh37:
Chr3:48602573
GRCh38:
Chr3:48565140
COL7A1not providedLikely benign
(Sep 30, 2020)
criteria provided, single submitterVCV001142810
33.
GRCh37:
Chr3:48602578
GRCh38:
Chr3:48565145
COL7A1E2862*not providedPathogenic
(Oct 27, 2020)
criteria provided, single submitterVCV001074916
34.
GRCh37:
Chr3:48602579
GRCh38:
Chr3:48565146
COL7A1not providedLikely benign
(Oct 3, 2017)
criteria provided, single submitterVCV000720421
35.
GRCh37:
Chr3:48602590
GRCh38:
Chr3:48565157
COL7A1Y2858HDystrophic epidermolysis bullosaPathogenic
(Nov 26, 2018)
criteria provided, single submitterVCV001047953
36.
GRCh37:
Chr3:48602593
GRCh38:
Chr3:48565160
COL7A1E2857KEpidermolysis bullosa dystrophica inversa, autosomal recessiveUncertain significance
(Oct 28, 2020)
no assertion criteria providedVCV000989693
37.
GRCh37:
Chr3:48602594-48602604
GRCh38:
Chr3:48565161-48565171
COL7A1not providedPathogenic
(May 20, 2019)
criteria provided, single submitterVCV000933622
38.
GRCh37:
Chr3:48602594
GRCh38:
Chr3:48565161
COL7A1Dystrophic epidermolysis bullosa, not providedConflicting interpretations of pathogenicity
(Nov 5, 2020)
criteria provided, conflicting interpretationsVCV000345791
39.
GRCh37:
Chr3:48602597-48602625
GRCh38:
Chr3:48565164-48565192
COL7A1P2846fsDystrophic epidermolysis bullosaPathogenic
(Feb 26, 2018)
criteria provided, single submitterVCV001047952
40.
GRCh37:
Chr3:48602621-48602622
GRCh38:
Chr3:48565188-48565189
COL7A1P2847fsnot providedPathogenic
(Mar 18, 2020)
criteria provided, single submitterVCV001074612
41.
GRCh37:
Chr3:48602621
GRCh38:
Chr3:48565188
COL7A1E2848fsRecessive dystrophic epidermolysis bullosaLikely pathogeniccriteria provided, single submitterVCV000982059
42.
GRCh37:
Chr3:48602621
GRCh38:
Chr3:48565188
COL7A1Epidermolysis bullosa dystrophica inversa, autosomal recessive, Dystrophic epidermolysis bullosa, not provided
Conflicting interpretations of pathogenicity
(Dec 4, 2020)
criteria provided, conflicting interpretationsVCV000345792
43.
GRCh37:
Chr3:48602622
GRCh38:
Chr3:48565189
COL7A1P2847Rnot providedLikely benign
(Dec 4, 2020)
criteria provided, single submitterVCV001110226
44.
GRCh37:
Chr3:48602623
GRCh38:
Chr3:48565190
COL7A1P2847Snot providedLikely benign
(Nov 20, 2020)
criteria provided, single submitterVCV001050618
45.
GRCh37:
Chr3:48602623
GRCh38:
Chr3:48565190
COL7A1P2847Anot provided, Epidermolysis bullosa dystrophica inversa, autosomal recessiveLikely benign
(Sep 2, 2020)
criteria provided, single submitterVCV000989694
46.
GRCh37:
Chr3:48602624
GRCh38:
Chr3:48565191
COL7A1not providedLikely benign
(Jul 23, 2020)
criteria provided, single submitterVCV001140486
47.
GRCh37:
Chr3:48602632
GRCh38:
Chr3:48565199
COL7A1R2844Wnot providedConflicting interpretations of pathogenicity
(Nov 23, 2020)
criteria provided, conflicting interpretationsVCV000453021
48.
GRCh37:
Chr3:48602833-48602846
GRCh38:
Chr3:48565400-48565413
COL7A1Recessive dystrophic epidermolysis bullosa, Epidermolysis bullosa, pretibial, autosomal recessive, not provided
Benign
(Dec 6, 2020)
criteria provided, single submitterVCV000728221
49.
GRCh37:
Chr3:48602834
GRCh38:
Chr3:48565401
COL7A1not providedLikely benign
(Feb 6, 2020)
criteria provided, single submitterVCV000755419
50.
GRCh37:
Chr3:48602835
GRCh38:
Chr3:48565402
COL7A1not providedLikely benign
(May 6, 2020)
criteria provided, single submitterVCV001118923
51.
GRCh37:
Chr3:48602856
GRCh38:
Chr3:48565423
COL7A1not providedLikely benign
(Sep 5, 2018)
criteria provided, single submitterVCV000750842
52.
GRCh37:
Chr3:48602865
GRCh38:
Chr3:48565432
COL7A1not providedLikely benign
(Aug 3, 2019)
criteria provided, single submitterVCV001144487
53.
GRCh37:
Chr3:48602865
GRCh38:
Chr3:48565432
COL7A1not provided, Epidermolysis bullosa dystrophica inversa, autosomal recessiveLikely benign
(Oct 13, 2020)
criteria provided, single submitterVCV000989695
54.
GRCh37:
Chr3:48602866
GRCh38:
Chr3:48565433
COL7A1R2835HDystrophic epidermolysis bullosa, not providedConflicting interpretations of pathogenicity
(Nov 25, 2020)
criteria provided, conflicting interpretationsVCV000345793
55.
GRCh37:
Chr3:48602868
GRCh38:
Chr3:48565435
COL7A1not providedLikely benign
(Apr 20, 2020)
criteria provided, single submitterVCV001097036
56.
GRCh37:
Chr3:48602885
GRCh38:
Chr3:48565452
COL7A1H2829YDystrophic epidermolysis bullosaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000900575
57.
GRCh37:
Chr3:48602886
GRCh38:
Chr3:48565453
COL7A1not providedLikely benign
(Mar 9, 2020)
criteria provided, single submitterVCV001128569
58.
GRCh37:
Chr3:48602891
GRCh38:
Chr3:48565458
COL7A1Q2827*Epidermolysis bullosa dystrophica inversa, autosomal recessivePathogenic
(Feb 1, 2002)
no assertion criteria providedVCV000029634
59.
GRCh37:
Chr3:48602895
GRCh38:
Chr3:48565462
COL7A1not providedLikely benign
(Oct 19, 2020)
criteria provided, single submitterVCV001085691
60.
GRCh37:
Chr3:48602898
GRCh38:
Chr3:48565465
COL7A1not providedBenign
(Nov 23, 2020)
criteria provided, single submitterVCV000787786
61.
GRCh37:
Chr3:48602913
GRCh38:
Chr3:48565480
COL7A1Y2819*not providedPathogenic
(Oct 25, 2020)
criteria provided, single submitterVCV001074793
62.
GRCh37:
Chr3:48602913
GRCh38:
Chr3:48565480
COL7A1Epidermolysis bullosa dystrophica inversa, autosomal recessiveUncertain significance
(Apr 24, 2020)
no assertion criteria providedVCV000989696
63.
GRCh37:
Chr3:48602919
GRCh38:
Chr3:48565486
COL7A1not providedLikely benign
(Jun 17, 2019)
criteria provided, single submitterVCV001146540
64.
GRCh37:
Chr3:48602926
GRCh38:
Chr3:48565493
COL7A1P2815LDystrophic epidermolysis bullosaUncertain significance
(Apr 28, 2017)
criteria provided, single submitterVCV000900576
65.
GRCh37:
Chr3:48603062
GRCh38:
Chr3:48565629
COL7A1not providedLikely benign
(Oct 16, 2020)
criteria provided, single submitterVCV001104542
66.
GRCh37:
Chr3:48603068
GRCh38:
Chr3:48565635
COL7A1not providedLikely pathogenic
(Feb 5, 2020)
criteria provided, single submitterVCV001066389
67.
GRCh37:
Chr3:48603069
GRCh38:
Chr3:48565636
COL7A1R2814*Epidermolysis bullosa dystrophica inversa, autosomal recessive, not providedPathogenic
(Nov 22, 2021)
criteria provided, multiple submitters, no conflictsVCV000265082
68.
GRCh37:
Chr3:48603082
GRCh38:
Chr3:48565649
COL7A1not providedLikely benign
(Jun 30, 2020)
criteria provided, single submitterVCV001124390
69.
GRCh37:
Chr3:48603090-48603108
GRCh38:
Chr3:48565657-48565675
COL7A1not providedLikely pathogenic
(Jun 6, 2019)
criteria provided, single submitterVCV000950608
70.
GRCh37:
Chr3:48603091
GRCh38:
Chr3:48565658
COL7A1not providedLikely benign
(May 13, 2020)
criteria provided, single submitterVCV001078159
71.
GRCh37:
Chr3:48603107
GRCh38:
Chr3:48565674
COL7A1not providedBenign
(Dec 3, 2020)
criteria provided, single submitterVCV001170564
72.
GRCh37:
Chr3:48603222-48603223
GRCh38:
Chr3:48565789-48565790
COL7A1not providedBenign
(Nov 10, 2018)
criteria provided, single submitterVCV001222190
73.
GRCh37:
Chr3:48603224-48603226
GRCh38:
Chr3:48565791-48565793
COL7A1not providedBenign
(Mar 3, 2015)
criteria provided, single submitterVCV001270322
74.
GRCh37:
Chr3:48603225-48603226
GRCh38:
Chr3:48565792-48565793
COL7A1not providedBenign
(Mar 3, 2015)
criteria provided, single submitterVCV001271692
75.
GRCh37:
Chr3:48603690
GRCh38:
Chr3:48566257
COL7A1Dystrophic epidermolysis bullosaUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000900577
76.
GRCh37:
Chr3:48603690
GRCh38:
Chr3:48566257
COL7A1Dystrophic epidermolysis bullosa, not providedLikely benign
(Oct 23, 2020)
criteria provided, single submitterVCV000795788
77.
GRCh37:
Chr3:48603693
GRCh38:
Chr3:48566260
COL7A1not providedLikely benign
(Sep 14, 2019)
criteria provided, single submitterVCV001159973
78.
GRCh37:
Chr3:48603714
GRCh38:
Chr3:48566281
COL7A1M2798KRecessive dystrophic epidermolysis bullosaPathogenic
(May 1, 1993)
no assertion criteria providedVCV000017423
79.
GRCh37:
Chr3:48603736
GRCh38:
Chr3:48566303
COL7A1R2791fsnot providedPathogenic
(Aug 29, 2020)
criteria provided, single submitterVCV001069808
80.
GRCh37:
Chr3:48603736
GRCh38:
Chr3:48566303
COL7A1R2791WInborn genetic diseases, not provided, Dystrophic epidermolysis bullosa,
Recessive dystrophic epidermolysis bullosa, Epidermolysis bullosa dystrophica inversa, autosomal recessive
Uncertain significance
(Apr 27, 2017)
criteria provided, multiple submitters, no conflictsVCV000212731
81.
GRCh37:
Chr3:48603746
GRCh38:
Chr3:48566313
COL7A1not providedLikely benign
(Nov 8, 2018)
criteria provided, single submitterVCV000794488
82.
GRCh37:
Chr3:48603767
GRCh38:
Chr3:48566334
COL7A1not provided, not specifiedBenign
(Nov 23, 2020)
criteria provided, single submitterVCV001165849
83.
GRCh37:
Chr3:48603946
GRCh38:
Chr3:48566513
COL7A1not providedLikely benign
(Mar 28, 2019)
criteria provided, single submitterVCV001127301
84.
GRCh37:
Chr3:48603948
GRCh38:
Chr3:48566515
COL7A1Dystrophic epidermolysis bullosaUncertain significance
(Jan 12, 2018)
criteria provided, single submitterVCV000902261
85.
GRCh37:
Chr3:48603952
GRCh38:
Chr3:48566519
COL7A1not providedLikely benign
(Nov 28, 2019)
criteria provided, single submitterVCV001123745
86.
GRCh37:
Chr3:48603970
GRCh38:
Chr3:48566537
COL7A1not providedLikely benign
(Jul 12, 2020)
criteria provided, single submitterVCV001129042
87.
GRCh37:
Chr3:48603972
GRCh38:
Chr3:48566539
COL7A1R2777*not providedPathogenic
(Feb 18, 2020)
criteria provided, multiple submitters, no conflictsVCV000265081
88.
GRCh37:
Chr3:48603978
GRCh38:
Chr3:48566545
COL7A1G2775Snot providedPathogenic
(Dec 3, 2019)
criteria provided, single submitterVCV001068913
89.
GRCh37:
Chr3:48603979
GRCh38:
Chr3:48566546
COL7A1Epidermolysis bullosa dystrophica inversa, autosomal recessive, not providedLikely benign
(Nov 25, 2020)
criteria provided, single submitterVCV000738954
90.
GRCh37:
Chr3:48603996
GRCh38:
Chr3:48566563
COL7A1G2769Rnot providedUncertain significance
(Jul 2, 2019)
criteria provided, single submitterVCV001027073
91.
GRCh37:
Chr3:48604016
GRCh38:
Chr3:48566583
COL7A1not specified, not providedBenign
(Dec 3, 2020)
criteria provided, multiple submitters, no conflictsVCV000255114
92.
GRCh37:
Chr3:48604059
GRCh38:
Chr3:48566626
COL7A1not providedBenign
(Mar 3, 2015)
criteria provided, single submitterVCV001250177
93.
GRCh37:
Chr3:48604092
GRCh38:
Chr3:48566659
COL7A1Dystrophic epidermolysis bullosaPathogenic
(May 25, 2009)
criteria provided, single submitterVCV001032188
94.
GRCh37:
Chr3:48604107
GRCh38:
Chr3:48566674
COL7A1E2764KDystrophic epidermolysis bullosaUncertain significance
(Jan 13, 2018)
criteria provided, single submitterVCV000902262
95.
GRCh37:
Chr3:48604108
GRCh38:
Chr3:48566675
COL7A1Epidermolysis bullosa dystrophica inversa, autosomal recessiveUncertain significance
(Oct 23, 2020)
no assertion criteria providedVCV000990813
96.
GRCh37:
Chr3:48604117
GRCh38:
Chr3:48566684
COL7A1Dystrophic epidermolysis bullosa, not providedConflicting interpretations of pathogenicity
(Jul 30, 2020)
criteria provided, conflicting interpretationsVCV000345794
97.
GRCh37:
Chr3:48604119
GRCh38:
Chr3:48566686
COL7A1G2760RRecessive dystrophic epidermolysis bullosaPathogenicno assertion criteria providedVCV000424628
98.
GRCh37:
Chr3:48604125
GRCh38:
Chr3:48566692
COL7A1V2758fsnot providedPathogenic
(Jul 24, 2020)
criteria provided, multiple submitters, no conflictsVCV000503806
99.
GRCh37:
Chr3:48604131
GRCh38:
Chr3:48566698
COL7A1P2756Snot providedUncertain significance
(Dec 29, 2016)
criteria provided, single submitterVCV000391719
100.
GRCh37:
Chr3:48604134
GRCh38:
Chr3:48566701
COL7A1A2755fsnot providedPathogenic
(Oct 19, 2020)
criteria provided, single submitterVCV001074416
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