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Items: 1 to 100 of 399

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review statusAccession
1.
GRCh37:
Chr10:101571360
GRCh38:
Chr10:99811603
ABCC2not provided, Pseudoxanthoma elasticumLikely pathogenic
(Oct 2, 2017)
criteria provided, single submitterVCV000194471
2.
GRCh37:
Chr16:15796991-16317329
GRCh38:
Chr16:15703134-16223472
ABCC6, ABCC1, MYH11, NDE1, CEP20, LOC112340382, LOC113939949Pseudoxanthoma elasticumPathogenic
(Apr 1, 2006)
no assertion criteria providedVCV000006568
3.
GRCh38:
Chr16:15788690-16185034
ABCC6, ABCC1, MYH11, CEP20, LOC112340382Pseudoxanthoma elasticumPathogenicno assertion criteria providedVCV000444012
4.
GRCh37:
Chr16:16243952
GRCh38:
Chr16:16150095
ABCC6Pseudoxanthoma elasticumBenign
(Mar 1, 2021)
no assertion criteria providedVCV000433370
5.
GRCh37:
Chr16:16243973
GRCh38:
Chr16:16150116
ABCC6Pseudoxanthoma elasticumBenign
(Mar 1, 2021)
criteria provided, single submitterVCV000433369
6.
GRCh37:
Chr16:16244001
GRCh38:
Chr16:16150144
ABCC6G1501S, G1387SPseudoxanthoma elasticumLikely pathogenic
(Mar 1, 2021)
criteria provided, single submitterVCV000433368
7.
GRCh37:
Chr16:16244054
GRCh38:
Chr16:16150197
ABCC6P1483L, P1369LPseudoxanthoma elasticum, not providedUncertain significance
(Apr 1, 2020)
criteria provided, single submitterVCV000433367
8.
GRCh37:
Chr16:16244061
GRCh38:
Chr16:16150204
ABCC6G1481S, G1367SPseudoxanthoma elasticum, not providedUncertain significance
(Aug 1, 2019)
criteria provided, single submitterVCV000433295
9.
GRCh37:
Chr16:16244068
GRCh38:
Chr16:16150211
ABCC6E1365fs, E1479fsPseudoxanthoma elasticumLikely pathogenic
(Mar 2, 2021)
no assertion criteria providedVCV000433365
10.
GRCh37:
Chr16:16244078
GRCh38:
Chr16:16150221
ABCC6G1475E, G1361EPseudoxanthoma elasticumLikely pathogenic
(Jun 23, 2019)
no assertion criteria providedVCV000812211
11.
GRCh37:
Chr16:16244082
GRCh38:
Chr16:16150225
ABCC6K1474*, K1360*Pseudoxanthoma elasticumLikely pathogenic
(Mar 2, 2021)
no assertion criteria providedVCV000433364
12.
GRCh37:
Chr16:16244424
GRCh38:
Chr16:16150567
ABCC6Pseudoxanthoma elasticumUncertain significance
(Feb 16, 2021)
no assertion criteria providedVCV000433397
13.
GRCh37:
Chr16:16244434
GRCh38:
Chr16:16150577
ABCC6Pseudoxanthoma elasticumLikely pathogenic
(Mar 2, 2021)
no assertion criteria providedVCV000433516
14.
GRCh37:
Chr16:16244457
GRCh38:
Chr16:16150600
ABCC6R1461C, R1347CPseudoxanthoma elasticumUncertain significance
(Feb 16, 2021)
no assertion criteria providedVCV000433475
15.
GRCh37:
Chr16:16244461
GRCh38:
Chr16:16150604
ABCC6Pseudoxanthoma elasticumUncertain significance
(Feb 16, 2021)
no assertion criteria providedVCV000433363
16.
GRCh37:
Chr16:16244463
GRCh38:
Chr16:16150606
ABCC6R1459C, R1345CPseudoxanthoma elasticum, not specifiedUncertain significance
(Mar 28, 2016)
criteria provided, single submitterVCV000006577
17.
GRCh37:
Chr16:16244497
GRCh38:
Chr16:16150640
ABCC6W1447*, W1333*Pseudoxanthoma elasticumLikely pathogenic
(Mar 2, 2021)
no assertion criteria providedVCV000433452
18.
GRCh37:
Chr16:16244503
GRCh38:
Chr16:16150646
ABCC6S1446fs, S1332fsPseudoxanthoma elasticumLikely pathogenic
(Mar 2, 2021)
no assertion criteria providedVCV000433362
19.
GRCh37:
Chr16:16244514
GRCh38:
Chr16:16150657
ABCC6A1442T, A1328TPseudoxanthoma elasticumUncertain significance
(Feb 16, 2021)
no assertion criteria providedVCV000433514
20.
GRCh37:
Chr16:16244520
GRCh38:
Chr16:16150663
ABCC6M1440fs, M1326fsPseudoxanthoma elasticumLikely pathogenic
(Mar 2, 2021)
no assertion criteria providedVCV000433361
21.
GRCh37:
Chr16:16244526-16244532
GRCh38:
Chr16:16150669-16150675
ABCC6T1322fs, T1436fsPseudoxanthoma elasticumLikely pathogenic
(Mar 2, 2021)
no assertion criteria providedVCV000433360
22.
GRCh37:
Chr16:16244533
GRCh38:
Chr16:16150676
ABCC6Pseudoxanthoma elasticumUncertain significance
(Feb 2, 2021)
no assertion criteria providedVCV000433359
23.
GRCh37:
Chr16:16244567
GRCh38:
Chr16:16150710
ABCC6I1424T, I1310TPseudoxanthoma elasticumUncertain significance
(Feb 16, 2021)
criteria provided, single submitterVCV000433358
24.
GRCh37:
Chr16:16244584
GRCh38:
Chr16:16150727
ABCC6K1305fs, K1419fsPseudoxanthoma elasticumLikely pathogenic
(Mar 2, 2021)
no assertion criteria providedVCV000433526
25.
GRCh37:
Chr16:16244584
GRCh38:
Chr16:16150727
ABCC6Pseudoxanthoma elasticum, not providedBenign
(Nov 28, 2020)
criteria provided, single submitterVCV000433357
26.
GRCh37:
Chr16:16244585
GRCh38:
Chr16:16150728
ABCC6R1418Q, R1304QPseudoxanthoma elasticum, not providedUncertain significance
(Jan 1, 2018)
criteria provided, single submitterVCV000433356
27.
GRCh37:
Chr16:16244594-16244595
GRCh38:
Chr16:16150737-16150738
ABCC6A1301fs, A1415fsPseudoxanthoma elasticumPathogenic
(Apr 1, 2006)
no assertion criteria providedVCV000006566
28.
GRCh37:
Chr16:16244597
GRCh38:
Chr16:16150740
ABCC6R1414H, R1300HPseudoxanthoma elasticumUncertain significance
(Feb 16, 2021)
no assertion criteria providedVCV000433446
29.
GRCh37:
Chr16:16244617-16244618
GRCh38:
Chr16:16150760-16150761
ABCC6Q1294fs, Q1408fsPseudoxanthoma elasticumLikely pathogenic
(Mar 2, 2021)
no assertion criteria providedVCV000433355
30.
GRCh37:
Chr16:16244622
GRCh38:
Chr16:16150765
ABCC6Q1406K, Q1292KGeneralized arterial calcification of infancy 2, Pseudoxanthoma elasticumPathogenic
(Mar 1, 2021)
no assertion criteria providedVCV000030338
31.
GRCh37:
Chr16:16244625
GRCh38:
Chr16:16150768
ABCC6G1405S, G1291SPseudoxanthoma elasticumPathogenic
(Mar 1, 2021)
no assertion criteria providedVCV000433380
32.
GRCh37:
Chr16:16244629
GRCh38:
Chr16:16150772
ABCC6S1403R, S1289RPseudoxanthoma elasticumPathogenic
(Mar 1, 2021)
no assertion criteria providedVCV000433354
33.
GRCh37:
Chr16:16244631
GRCh38:
Chr16:16150774
ABCC6Pseudoxanthoma elasticumPathogenic
(Apr 25, 2020)
criteria provided, single submitterVCV000433453
34.
GRCh37:
Chr16:16245107-16261514
GRCh38:
Chr16:16151250-16167657
ABCC6Pseudoxanthoma elasticumUncertain significance
(Mar 12, 2021)
no assertion criteria providedVCV000433442
35.
GRCh37:
Chr16:16245108-16261530
GRCh38:
Chr16:16151251-16167673
ABCC6Pseudoxanthoma elasticumPathogenic
(Mar 1, 2001)
no assertion criteria providedVCV000006573
36.
GRCh37:
Chr16:16248476
GRCh38:
Chr16:16154619
ABCC6not provided, Pseudoxanthoma elasticumBenign
(Dec 5, 2020)
criteria provided, single submitterVCV000433396
37.
GRCh37:
Chr16:16248495
GRCh38:
Chr16:16154638
ABCC6E1400K, E1286KPseudoxanthoma elasticumPathogenic
(Mar 1, 2021)
no assertion criteria providedVCV000433353
38.
GRCh37:
Chr16:16248501
GRCh38:
Chr16:16154644
ABCC6R1398*, R1284*Pseudoxanthoma elasticumPathogenic
(Nov 27, 2017)
criteria provided, single submitterVCV000433352
39.
GRCh37:
Chr16:16248504
GRCh38:
Chr16:16154647
ABCC6D1397N, D1283NPseudoxanthoma elasticumUncertain significance
(Feb 16, 2021)
no assertion criteria providedVCV000433437
40.
GRCh37:
Chr16:16248511
GRCh38:
Chr16:16154654
ABCC6Pseudoxanthoma elasticumUncertain significance
(Feb 16, 2021)
no assertion criteria providedVCV000433406
41.
GRCh37:
Chr16:16248511
GRCh38:
Chr16:16154654
ABCC6K1394fs, K1280fsPseudoxanthoma elasticum, not providedPathogenic
(Jul 23, 2018)
criteria provided, single submitterVCV000433351
42.
GRCh37:
Chr16:16248589
GRCh38:
Chr16:16154732
ABCC6D1254fs, D1368fsPseudoxanthoma elasticum, Abnormality of the eyePathogeniccriteria provided, single submitterVCV000433350
43.
GRCh37:
Chr16:16248612
GRCh38:
Chr16:16154755
ABCC6D1361N, D1247NPseudoxanthoma elasticum, not providedConflicting interpretations of pathogenicity
(Mar 12, 2021)
criteria provided, conflicting interpretationsVCV000419738
44.
GRCh37:
Chr16:16248624
GRCh38:
Chr16:16154767
ABCC6R1357W, R1243Wnot provided, Pseudoxanthoma elasticumConflicting interpretations of pathogenicity
(Oct 19, 2020)
criteria provided, conflicting interpretationsVCV000143119
45.
GRCh37:
Chr16:16248633
GRCh38:
Chr16:16154776
ABCC6G1354R, G1240RPseudoxanthoma elasticumPathogenic
(Mar 1, 2021)
no assertion criteria providedVCV000433349
46.
GRCh37:
Chr16:16248645
GRCh38:
Chr16:16154788
ABCC6I1350L, I1236LPseudoxanthoma elasticumUncertain significance
(Feb 16, 2021)
criteria provided, single submitterVCV000433348
47.
GRCh37:
Chr16:16248730
GRCh38:
Chr16:16154873
ABCC6Pseudoxanthoma elasticumPathogeniccriteria provided, single submitterVCV000599399
48.
GRCh37:
Chr16:16248730
GRCh38:
Chr16:16154873
ABCC6Q1347H, Q1233HPseudoxanthoma elasticumPathogenic
(Mar 1, 2021)
criteria provided, single submitterVCV000433347
49.
GRCh37:
Chr16:16248735
GRCh38:
Chr16:16154878
ABCC6P1346S, P1232SPseudoxanthoma elasticumUncertain significance
(Feb 16, 2021)
no assertion criteria providedVCV000433346
50.
GRCh37:
Chr16:16248746
GRCh38:
Chr16:16154889
ABCC6I1342T, I1228TPseudoxanthoma elasticumLikely pathogenic
(Feb 17, 2021)
criteria provided, single submitterVCV000433345
51.
GRCh37:
Chr16:16248755
GRCh38:
Chr16:16154898
ABCC6R1339L, R1225LPseudoxanthoma elasticumUncertain significance
(Feb 16, 2021)
no assertion criteria providedVCV000433344
52.
GRCh37:
Chr16:16248755
GRCh38:
Chr16:16154898
ABCC6R1339H, R1225Hnot provided, Pseudoxanthoma elasticumPathogenic/Likely pathogenic
(Mar 1, 2021)
criteria provided, multiple submitters, no conflictsVCV000265021
53.
GRCh37:
Chr16:16248756
GRCh38:
Chr16:16154899
ABCC6R1339C, R1225CPseudoxanthoma elasticumPathogenic
(Mar 1, 2021)
no assertion criteria providedVCV000006576
54.
GRCh37:
Chr16:16248767
GRCh38:
Chr16:16154910
ABCC6L1335Q, L1221QPseudoxanthoma elasticumPathogenic
(Mar 1, 2021)
no assertion criteria providedVCV000433343
55.
GRCh37:
Chr16:16248767
GRCh38:
Chr16:16154910
ABCC6L1335P, L1221PPseudoxanthoma elasticumPathogenic
(Mar 1, 2021)
no assertion criteria providedVCV000433342
56.
GRCh37:
Chr16:16248772
GRCh38:
Chr16:16154915
ABCC6Pseudoxanthoma elasticumUncertain significance
(Feb 16, 2021)
no assertion criteria providedVCV000433341
57.
GRCh37:
Chr16:16248793
GRCh38:
Chr16:16154936
ABCC6not provided, Pseudoxanthoma elasticumBenign
(Nov 18, 2020)
criteria provided, single submitterVCV000433340
58.
GRCh37:
Chr16:16248795
GRCh38:
Chr16:16154938
ABCC6D1326Y, D1212YPseudoxanthoma elasticumUncertain significance
(Feb 16, 2021)
no assertion criteria providedVCV000433487
59.
GRCh37:
Chr16:16248800
GRCh38:
Chr16:16154943
ABCC6W1324*, W1210*Pseudoxanthoma elasticumLikely pathogenic
(Mar 2, 2021)
no assertion criteria providedVCV000433339
60.
GRCh37:
Chr16:16248810
GRCh38:
Chr16:16154953
ABCC6G1321S, G1207SPseudoxanthoma elasticumLikely pathogenic
(Mar 1, 2021)
criteria provided, single submitterVCV000006580
61.
GRCh37:
Chr16:16248818
GRCh38:
Chr16:16154961
ABCC6A1318G, A1204GPseudoxanthoma elasticumLikely pathogenic
(Mar 1, 2021)
no assertion criteria providedVCV000433494
62.
GRCh37:
Chr16:16248830
GRCh38:
Chr16:16154973
ABCC6R1314Q, R1200QPseudoxanthoma elasticum, not provided, not specified
Conflicting interpretations of pathogenicity
(Mar 1, 2021)
criteria provided, conflicting interpretationsVCV000402332
63.
GRCh37:
Chr16:16248831
GRCh38:
Chr16:16154974
ABCC6R1314W, R1200WPseudoxanthoma elasticum, Generalized arterial calcification of infancy 2, Generalized arterial calcification of infancy 2,
Pseudoxanthoma elasticum, Pseudoxanthoma elasticum, forme fruste, not provided
Pathogenic
(Jun 30, 2021)
criteria provided, multiple submitters, no conflictsVCV000006564
64.
GRCh37:
Chr16:16248839
GRCh38:
Chr16:16154982
ABCC6G1311E, G1197EPseudoxanthoma elasticumUncertain significance
(Feb 16, 2021)
no assertion criteria providedVCV000433338
65.
GRCh37:
Chr16:16248852
GRCh38:
Chr16:16154995
ABCC6S1307P, S1193PPseudoxanthoma elasticumLikely pathogenic
(Mar 1, 2021)
no assertion criteria providedVCV000433337
66.
GRCh37:
Chr16:16248859
GRCh38:
Chr16:16155002
ABCC6K1305fs, K1191fsPseudoxanthoma elasticumLikely pathogenic
(Mar 2, 2021)
no assertion criteria providedVCV000433336
67.
GRCh37:
Chr16:16248864
GRCh38:
Chr16:16155007
ABCC6A1303P, A1189PPseudoxanthoma elasticumPathogenic
(Mar 1, 2021)
no assertion criteria providedVCV000433335
68.
GRCh37:
Chr16:16248867
GRCh38:
Chr16:16155010
ABCC6G1302R, G1188Rnot provided, Pseudoxanthoma elasticum, forme fruste, Pseudoxanthoma elasticum,
Generalized arterial calcification of infancy 2, Pseudoxanthoma elasticum
Pathogenic
(Oct 31, 2018)
criteria provided, multiple submitters, no conflictsVCV000006579
69.
GRCh37:
Chr16:16248869
GRCh38:
Chr16:16155012
ABCC6T1301I, T1187IPseudoxanthoma elasticumLikely pathogenic
(Mar 1, 2021)
criteria provided, single submitterVCV000433334
70.
GRCh37:
Chr16:16248876
GRCh38:
Chr16:16155019
ABCC6G1299S, G1185SPseudoxanthoma elasticumPathogenic
(Mar 1, 2021)
no assertion criteria providedVCV000433333
71.
GRCh37:
Chr16:16248879
GRCh38:
Chr16:16155022
ABCC6V1298F, V1184FPseudoxanthoma elasticumPathogenic
(Mar 1, 2021)
criteria provided, single submitterVCV000006578
72.
GRCh37:
Chr16:16248893
GRCh38:
Chr16:16155036
ABCC6Pseudoxanthoma elasticumUncertain significance
(Feb 16, 2021)
criteria provided, single submitterVCV000433395
73.
GRCh37:
Chr16:16248894
GRCh38:
Chr16:16155037
ABCC6Pseudoxanthoma elasticum, not providedPathogenic
(Oct 27, 2020)
criteria provided, single submitterVCV000433394
74.
GRCh37:
Chr16:16248898
GRCh38:
Chr16:16155041
ABCC6Pseudoxanthoma elasticumUncertain significance
(Feb 16, 2021)
no assertion criteria providedVCV000433468
75.
GRCh37:
Chr16:16248912
GRCh38:
Chr16:16155055
ABCC6not provided, Pseudoxanthoma elasticumBenign/Likely benign
(Mar 1, 2021)
no assertion criteria providedVCV000433418
76.
GRCh37:
Chr16:16249938-16258055
GRCh38:
Chr16:16156081-16164198
ABCC6Pseudoxanthoma elasticumUncertain significance
(Mar 12, 2021)
no assertion criteria providedVCV000433423
77.
GRCh37:
Chr16:16251435
GRCh38:
Chr16:16157578
ABCC6Pseudoxanthoma elasticum, forme fruste, Generalized arterial calcification of infancy 2, Pseudoxanthoma elasticum
Benign
(Jul 14, 2021)
criteria provided, single submitterVCV001188978
78.
GRCh37:
Chr16:16251519-16251526
GRCh38:
Chr16:16157662-16157669
ABCC6Pseudoxanthoma elasticumLikely pathogenic
(Mar 2, 2021)
no assertion criteria providedVCV000433515
79.
GRCh37:
Chr16:16251520-16251522
GRCh38:
Chr16:16157663-16157665
ABCC6K1294del, K1180delPseudoxanthoma elasticumUncertain significance
(Feb 16, 2021)
criteria provided, single submitterVCV000433231
80.
GRCh37:
Chr16:16251525
GRCh38:
Chr16:16157668
ABCC6E1293K, E1179KPseudoxanthoma elasticumUncertain significance
(Feb 16, 2021)
no assertion criteria providedVCV000433332
81.
GRCh37:
Chr16:16251531
GRCh38:
Chr16:16157674
ABCC6A1291T, A1177Tnot provided, Pseudoxanthoma elasticum, not specified
Benign
(Dec 2, 2020)
criteria provided, multiple submitters, no conflictsVCV000379215
82.
GRCh37:
Chr16:16251532-16251533
GRCh38:
Chr16:16157675-16157676
ABCC6A1291fs, A1177fsPseudoxanthoma elasticumLikely pathogenic
(Mar 2, 2021)
no assertion criteria providedVCV000433464
83.
GRCh37:
Chr16:16251532-16251579
GRCh38:
Chr16:16157675-16157722
ABCC6Pseudoxanthoma elasticumUncertain significance
(Feb 16, 2021)
no assertion criteria providedVCV000433413
84.
GRCh37:
Chr16:16251573-16251574
GRCh38:
Chr16:16157716-16157717
ABCC6Pseudoxanthoma elasticumLikely pathogenic
(Mar 2, 2021)
no assertion criteria providedVCV000433493
85.
GRCh37:
Chr16:16251579
GRCh38:
Chr16:16157722
ABCC6R1275*, R1161*Pseudoxanthoma elasticumLikely pathogenic
(Mar 1, 2021)
no assertion criteria providedVCV000433294
86.
GRCh37:
Chr16:16251584
GRCh38:
Chr16:16157727
ABCC6R1273K, R1159KPseudoxanthoma elasticumUncertain significance
(Feb 16, 2021)
no assertion criteria providedVCV000433331
87.
GRCh37:
Chr16:16251599
GRCh38:
Chr16:16157742
ABCC6R1268Q, R1154QPseudoxanthoma elasticum, not specified, not provided
Benign
(Mar 1, 2021)
criteria provided, multiple submitters, no conflictsVCV000006570
88.
GRCh37:
Chr16:16251604
GRCh38:
Chr16:16157747
ABCC6E1152fs, E1266fsPseudoxanthoma elasticumLikely pathogenic
(Mar 2, 2021)
no assertion criteria providedVCV000433379
89.
GRCh37:
Chr16:16251612
GRCh38:
Chr16:16157755
ABCC6Q1264*, Q1150*Pseudoxanthoma elasticumLikely pathogenic
(Mar 2, 2021)
no assertion criteria providedVCV000433461
90.
GRCh37:
Chr16:16251615
GRCh38:
Chr16:16157758
ABCC6G1263R, G1149RPseudoxanthoma elasticumUncertain significance
(Feb 16, 2021)
criteria provided, single submitterVCV000433435
91.
GRCh37:
Chr16:16251625
GRCh38:
Chr16:16157768
ABCC6W1259*, W1145*Pseudoxanthoma elasticumLikely pathogenic
(Mar 2, 2021)
no assertion criteria providedVCV000433490
92.
GRCh37:
Chr16:16251626-16251627
GRCh38:
Chr16:16157769-16157770
ABCC6W1259fs, W1145fsPseudoxanthoma elasticumPathogenicno assertion criteria providedVCV000433485
93.
GRCh37:
Chr16:16251627-16251628
GRCh38:
Chr16:16157770-16157771
ABCC6W1259fs, W1145fsPseudoxanthoma elasticumLikely pathogenic
(Mar 2, 2021)
no assertion criteria providedVCV000433330
94.
GRCh37:
Chr16:16251627
GRCh38:
Chr16:16157770
ABCC6W1259fs, W1145fsPseudoxanthoma elasticumPathogenic
(Jan 1, 2019)
criteria provided, single submitterVCV000006563
95.
GRCh37:
Chr16:16251667
GRCh38:
Chr16:16157810
ABCC6Generalized arterial calcification of infancy 2, Pseudoxanthoma elasticumPathogenic
(Mar 12, 2021)
no assertion criteria providedVCV000006574
96.
GRCh37:
Chr16:16253284
GRCh38:
Chr16:16159427
ABCC6Pseudoxanthoma elasticum, forme fruste, Generalized arterial calcification of infancy 2, Pseudoxanthoma elasticum
Benign
(Jul 14, 2021)
criteria provided, single submitterVCV001188979
97.
GRCh37:
Chr16:16253339
GRCh38:
Chr16:16159482
ABCC6Pseudoxanthoma elasticumUncertain significance
(Feb 16, 2021)
no assertion criteria providedVCV000433328
98.
GRCh37:
Chr16:16253339
GRCh38:
Chr16:16159482
ABCC6E1245D, E1131DPseudoxanthoma elasticumPathogenic
(Mar 1, 2021)
no assertion criteria providedVCV000433327
99.
GRCh37:
Chr16:16253351
GRCh38:
Chr16:16159494
ABCC6W1241C, W1127CPseudoxanthoma elasticumUncertain significance
(Feb 16, 2021)
no assertion criteria providedVCV000433287
100.
GRCh37:
Chr16:16253352
GRCh38:
Chr16:16159495
ABCC6W1241*, W1127*Pseudoxanthoma elasticumLikely pathogenic
(Mar 2, 2021)
criteria provided, single submitterVCV000433211
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