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Links from MedGen

Items: 1 to 100 of 575

VariationLocationGene(s)Protein changeCondition(s)Clinical significance
(Last reviewed)
Review status
1.
GRCh37:
Chr3:182789067
GRCh38:
Chr3:183071279
MCCC1C190*, C73*, C81*3-methylcrotonyl-CoA carboxylase 1 deficiencyLikely pathogeniccriteria provided, single submitter
2.
GRCh37:
Chr3:182755018
GRCh38:
Chr3:183037230
MCCC1L411F, L419F, L528F3-methylcrotonyl-CoA carboxylase 1 deficiencyUncertain significance
(Nov 9, 2020)
criteria provided, single submitter
3.
GRCh37:
Chr3:182754986-182770048
MCCC13-methylcrotonyl-CoA carboxylase 1 deficiencyPathogenic
(Sep 28, 2022)
criteria provided, single submitter
4.
GRCh37:
Chr3:182754986-182775230
MCCC13-methylcrotonyl-CoA carboxylase 1 deficiencyPathogenic
(Jun 15, 2022)
criteria provided, single submitter
5.
GRCh37:
Chr3:182810187-182812403
MCCC13-methylcrotonyl-CoA carboxylase 1 deficiencyPathogenic
(May 16, 2022)
criteria provided, single submitter
6.
GRCh37:
Chr3:182756794-182763348
MCCC13-methylcrotonyl-CoA carboxylase 1 deficiencyPathogenic
(Apr 8, 2022)
criteria provided, single submitter
7.
GRCh37:
Chr3:182769927-182817228
MCCC13-methylcrotonyl-CoA carboxylase 1 deficiencyPathogenic
(Mar 27, 2022)
criteria provided, single submitter
8.
GRCh37:
Chr3:182733226-184094097
ALG3-congenital disorder of glycosylation, 3-methylcrotonyl-CoA carboxylase 1 deficiencyConflicting interpretations of pathogenicity
(Aug 2, 2022)
criteria provided, conflicting interpretations
9.
GRCh37:
Chr3:182751803
GRCh38:
Chr3:183034015
MCCC1M436V, M444V, M553V3-methylcrotonyl-CoA carboxylase 1 deficiencyUncertain significance
(May 5, 2022)
criteria provided, single submitter
10.
GRCh37:
Chr3:182755224
GRCh38:
Chr3:183037436
MCCC13-methylcrotonyl-CoA carboxylase 1 deficiencyLikely pathogenic
(Aug 4, 2022)
criteria provided, single submitter
11.
GRCh37:
Chr3:182763300
GRCh38:
Chr3:183045512
MCCC1K211N, K219N, K328N3-methylcrotonyl-CoA carboxylase 1 deficiencyUncertain significance
(Aug 11, 2022)
criteria provided, single submitter
12.
GRCh37:
Chr3:182817224
GRCh38:
Chr3:183099436
MCCC1A2E3-methylcrotonyl-CoA carboxylase 1 deficiencyUncertain significance
(Mar 19, 2022)
criteria provided, single submitter
13.
GRCh37:
Chr3:182759473
GRCh38:
Chr3:183041685
MCCC1E266D, E274D, E383D3-methylcrotonyl-CoA carboxylase 1 deficiencyUncertain significance
(Aug 19, 2022)
criteria provided, single submitter
14.
GRCh37:
Chr3:182756943
GRCh38:
Chr3:183039155
MCCC13-methylcrotonyl-CoA carboxylase 1 deficiencyLikely benign
(Jul 23, 2022)
criteria provided, single submitter
15.
GRCh37:
Chr3:182790259
GRCh38:
Chr3:183072471
MCCC1C129Y, C20YInborn genetic diseases, 3-methylcrotonyl-CoA carboxylase 1 deficiencyConflicting interpretations of pathogenicity
(Nov 12, 2021)
criteria provided, conflicting interpretations
16.
GRCh37:
Chr3:182788886-182788890
GRCh38:
Chr3:183071098-183071102
MCCC1S103fs, S220fs, S111fs3-methylcrotonyl-CoA carboxylase 1 deficiencyPathogenic
(Feb 18, 2022)
criteria provided, single submitter
17.
GRCh37:
Chr3:182755003
GRCh38:
Chr3:183037215
MCCC13-methylcrotonyl-CoA carboxylase 1 deficiencyUncertain significance
(Mar 4, 2022)
criteria provided, single submitter
18.
GRCh37:
Chr3:182756942
GRCh38:
Chr3:183039154
MCCC13-methylcrotonyl-CoA carboxylase 1 deficiencyBenign
(Feb 6, 2022)
criteria provided, single submitter
19.
GRCh37:
Chr3:182804485
GRCh38:
Chr3:183086697
MCCC1A13V, A122V, H46Y3-methylcrotonyl-CoA carboxylase 1 deficiencyUncertain significance
(Jun 15, 2022)
criteria provided, single submitter
20.
GRCh37:
Chr3:182755020
GRCh38:
Chr3:183037232
MCCC1T410I, T418I, T527I3-methylcrotonyl-CoA carboxylase 1 deficiencyUncertain significance
(Jul 27, 2022)
criteria provided, single submitter
21.
GRCh37:
Chr3:182769974
GRCh38:
Chr3:183052186
MCCC1A193P, A201P, A310P3-methylcrotonyl-CoA carboxylase 1 deficiencyUncertain significance
(Jul 19, 2022)
criteria provided, single submitter
22.
GRCh37:
Chr3:182790165
GRCh38:
Chr3:183072377
MCCC1M160I, M51I3-methylcrotonyl-CoA carboxylase 1 deficiencyUncertain significance
(Jul 18, 2022)
criteria provided, single submitter
23.
GRCh37:
Chr3:182775146
GRCh38:
Chr3:183057358
MCCC1C159G, C167G, C276G3-methylcrotonyl-CoA carboxylase 1 deficiencyUncertain significance
(Oct 4, 2022)
criteria provided, single submitter
24.
GRCh37:
Chr3:182755058-182755059
GRCh38:
Chr3:183037270-183037271
MCCC1L406fs, L515fs, L398fs3-methylcrotonyl-CoA carboxylase 1 deficiencyPathogenic
(Aug 24, 2022)
criteria provided, single submitter
25.
GRCh37:
Chr3:182775186
GRCh38:
Chr3:183057398
MCCC13-methylcrotonyl-CoA carboxylase 1 deficiencyLikely benign
(Jul 22, 2022)
criteria provided, single submitter
26.
GRCh37:
Chr3:182755150
GRCh38:
Chr3:183037362
MCCC1V367L, V375L, V484L3-methylcrotonyl-CoA carboxylase 1 deficiencyUncertain significance
(Jan 14, 2022)
criteria provided, single submitter
27.
GRCh37:
Chr3:182789142
GRCh38:
Chr3:183071354
MCCC13-methylcrotonyl-CoA carboxylase 1 deficiencyLikely benign
(Mar 19, 2022)
criteria provided, single submitter
28.
GRCh37:
Chr3:182738027
GRCh38:
Chr3:183020239
MCCC13-methylcrotonyl-CoA carboxylase 1 deficiencyLikely pathogenic
(Aug 16, 2022)
criteria provided, single submitter
29.
GRCh37:
Chr3:182763268
GRCh38:
Chr3:183045480
MCCC1R230M, R222M, R339M3-methylcrotonyl-CoA carboxylase 1 deficiencyUncertain significance
(Dec 16, 2021)
criteria provided, single submitter
30.
GRCh37:
Chr3:182738043
GRCh38:
Chr3:183020255
MCCC13-methylcrotonyl-CoA carboxylase 1 deficiencyLikely benign
(Jul 23, 2022)
criteria provided, single submitter
31.
GRCh37:
Chr3:182743549
GRCh38:
Chr3:183025761
MCCC13-methylcrotonyl-CoA carboxylase 1 deficiencyLikely benign
(May 27, 2022)
criteria provided, single submitter
32.
GRCh37:
Chr3:182775168
GRCh38:
Chr3:183057380
MCCC13-methylcrotonyl-CoA carboxylase 1 deficiencyLikely benign
(May 17, 2022)
criteria provided, single submitter
33.
GRCh37:
Chr3:182769960
GRCh38:
Chr3:183052172
MCCC1N197K, N314K, N205K3-methylcrotonyl-CoA carboxylase 1 deficiencyUncertain significance
(Jul 6, 2022)
criteria provided, single submitter
34.
GRCh37:
Chr3:182810198
GRCh38:
Chr3:183092410
MCCC1M91fs3-methylcrotonyl-CoA carboxylase 1 deficiencyPathogenic
(Mar 15, 2022)
criteria provided, single submitter
35.
GRCh37:
Chr3:182756929
GRCh38:
Chr3:183039141
MCCC13-methylcrotonyl-CoA carboxylase 1 deficiencyLikely benign
(Oct 17, 2022)
criteria provided, single submitter
36.
GRCh37:
Chr3:182740292
GRCh38:
Chr3:183022504
MCCC1D485E, D594E, D477E3-methylcrotonyl-CoA carboxylase 1 deficiencyUncertain significance
(Jul 25, 2022)
criteria provided, multiple submitters, no conflicts
37.
GRCh37:
Chr3:182804549
GRCh38:
Chr3:183086761
MCCC1A101T3-methylcrotonyl-CoA carboxylase 1 deficiencyUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
38.
GRCh37:
Chr3:182775147
GRCh38:
Chr3:183057359
MCCC1D158E, D275E, D166E3-methylcrotonyl-CoA carboxylase 1 deficiencyUncertain significance
(Apr 22, 2022)
criteria provided, single submitter
39.
GRCh37:
Chr3:182789015
GRCh38:
Chr3:183071227
MCCC1R99W, R208W, R91W3-methylcrotonyl-CoA carboxylase 1 deficiencyUncertain significance
(Jul 24, 2022)
criteria provided, single submitter
40.
GRCh37:
Chr3:182817205
GRCh38:
Chr3:183099417
MCCC13-methylcrotonyl-CoA carboxylase 1 deficiencyLikely benign
(Oct 16, 2022)
criteria provided, single submitter
41.
GRCh37:
Chr3:182770022
GRCh38:
Chr3:183052234
MCCC1I177V, I294V, I185V3-methylcrotonyl-CoA carboxylase 1 deficiencyUncertain significance
(Sep 2, 2022)
criteria provided, single submitter
42.
GRCh37:
Chr3:182756918
GRCh38:
Chr3:183039130
MCCC1E308K, E316K, E425K3-methylcrotonyl-CoA carboxylase 1 deficiencyUncertain significance
(Feb 2, 2022)
criteria provided, single submitter
43.
GRCh37:
Chr3:182751776-182751777
GRCh38:
Chr3:183033988-183033989
MCCC13-methylcrotonyl-CoA carboxylase 1 deficiencyConflicting interpretations of pathogenicity
(Oct 17, 2022)
criteria provided, conflicting interpretations
44.
GRCh37:
Chr3:182755083
GRCh38:
Chr3:183037295
MCCC1E506A, E389A, E397A3-methylcrotonyl-CoA carboxylase 1 deficiencyUncertain significance
(Dec 2, 2021)
criteria provided, single submitter
45.
GRCh37:
Chr3:182775206
GRCh38:
Chr3:183057418
MCCC1V139I, V256I, V147I3-methylcrotonyl-CoA carboxylase 1 deficiencyUncertain significance
(Mar 27, 2022)
criteria provided, single submitter
46.
GRCh37:
Chr3:182788924
GRCh38:
Chr3:183071136
MCCC13-methylcrotonyl-CoA carboxylase 1 deficiencyLikely benign
(Jul 15, 2022)
criteria provided, single submitter
47.
GRCh37:
Chr3:182769946
GRCh38:
Chr3:183052158
MCCC13-methylcrotonyl-CoA carboxylase 1 deficiencyLikely pathogenic
(Apr 22, 2022)
criteria provided, single submitter
48.
GRCh37:
Chr3:182770023
GRCh38:
Chr3:183052235
MCCC13-methylcrotonyl-CoA carboxylase 1 deficiencyLikely benign
(Apr 3, 2022)
criteria provided, single submitter
49.
GRCh37:
Chr3:182751781
GRCh38:
Chr3:183033993
MCCC1N560fs, N443fs, N451fs3-methylcrotonyl-CoA carboxylase 1 deficiencyPathogenic
(Apr 21, 2022)
criteria provided, single submitter
50.
GRCh37:
Chr3:182788979-182788980
GRCh38:
Chr3:183071191-183071192
MCCC13-methylcrotonyl-CoA carboxylase 1 deficiencyUncertain significance
(Mar 29, 2022)
criteria provided, single submitter
51.
GRCh37:
Chr3:182754994
GRCh38:
Chr3:183037206
MCCC13-methylcrotonyl-CoA carboxylase 1 deficiencyLikely benign
(Mar 26, 2022)
criteria provided, single submitter
52.
GRCh37:
Chr3:182751830
GRCh38:
Chr3:183034042
MCCC1R427G, R435G, R544G3-methylcrotonyl-CoA carboxylase 1 deficiencyUncertain significance
(Mar 16, 2022)
criteria provided, single submitter
53.
GRCh37:
Chr3:182743598
GRCh38:
Chr3:183025810
MCCC13-methylcrotonyl-CoA carboxylase 1 deficiencyLikely benign
(Mar 17, 2022)
criteria provided, single submitter
54.
GRCh37:
Chr3:182755092
GRCh38:
Chr3:183037304
MCCC1A386E, A394E, A503E3-methylcrotonyl-CoA carboxylase 1 deficiencyUncertain significance
(May 10, 2022)
criteria provided, single submitter
55.
GRCh37:
Chr3:182740345-182740346
GRCh38:
Chr3:183022557-183022558
MCCC13-methylcrotonyl-CoA carboxylase 1 deficiencyBenign
(Feb 22, 2022)
criteria provided, single submitter
56.
GRCh37:
Chr3:182789156
GRCh38:
Chr3:183071368
MCCC13-methylcrotonyl-CoA carboxylase 1 deficiencyLikely benign
(Jul 19, 2022)
criteria provided, single submitter
57.
GRCh37:
Chr3:182769941
GRCh38:
Chr3:183052153
MCCC13-methylcrotonyl-CoA carboxylase 1 deficiencyUncertain significance
(Aug 21, 2022)
criteria provided, single submitter
58.
GRCh37:
Chr3:182788899
GRCh38:
Chr3:183071111
MCCC1I108F, I217F, I100F3-methylcrotonyl-CoA carboxylase 1 deficiencyUncertain significance
(Jul 12, 2022)
criteria provided, single submitter
59.
GRCh37:
Chr3:182735058
GRCh38:
Chr3:183017270
MCCC1M565R, M573R, M682R3-methylcrotonyl-CoA carboxylase 1 deficiencyUncertain significance
(Jan 19, 2022)
criteria provided, single submitter
60.
GRCh37:
Chr3:182763343
GRCh38:
Chr3:183045555
MCCC13-methylcrotonyl-CoA carboxylase 1 deficiencyLikely benign
(Jan 24, 2022)
criteria provided, single submitter
61.
GRCh37:
Chr3:182812366
GRCh38:
Chr3:183094578
MCCC1E9K, M39I3-methylcrotonyl-CoA carboxylase 1 deficiencyUncertain significance
(Jan 15, 2022)
criteria provided, single submitter
62.
GRCh37:
Chr3:182733313
GRCh38:
Chr3:183015525
MCCC13-methylcrotonyl-CoA carboxylase 1 deficiencyLikely benign
(Sep 28, 2022)
criteria provided, single submitter
63.
GRCh37:
Chr3:182735114
GRCh38:
Chr3:183017326
MCCC13-methylcrotonyl-CoA carboxylase 1 deficiencyLikely benign
(Jan 13, 2022)
criteria provided, single submitter
64.
GRCh37:
Chr3:182790208
GRCh38:
Chr3:183072420
MCCC1G146A, G37A3-methylcrotonyl-CoA carboxylase 1 deficiencyUncertain significance
(Mar 21, 2022)
criteria provided, single submitter
65.
GRCh37:
Chr3:182763335
GRCh38:
Chr3:183045547
MCCC13-methylcrotonyl-CoA carboxylase 1 deficiencyLikely benign
(Mar 26, 2022)
criteria provided, single submitter
66.
GRCh37:
Chr3:182788991
GRCh38:
Chr3:183071203
MCCC13-methylcrotonyl-CoA carboxylase 1 deficiencyLikely benign
(Dec 18, 2021)
criteria provided, single submitter
67.
GRCh37:
Chr3:182735057
GRCh38:
Chr3:183017269
MCCC1M565I, M573I, M682I3-methylcrotonyl-CoA carboxylase 1 deficiency, Inborn genetic diseasesUncertain significance
(Nov 9, 2021)
criteria provided, multiple submitters, no conflicts
68.
GRCh37:
Chr3:182788786
GRCh38:
Chr3:183070998
MCCC13-methylcrotonyl-CoA carboxylase 1 deficiencyLikely pathogenic
(May 28, 2022)
criteria provided, single submitter
69.
GRCh37:
Chr3:182759414
GRCh38:
Chr3:183041626
MCCC1V294G, V403G, V286G3-methylcrotonyl-CoA carboxylase 1 deficiencyUncertain significance
(Mar 26, 2022)
criteria provided, single submitter
70.
GRCh37:
Chr3:182733369
GRCh38:
Chr3:183015581
MCCC13-methylcrotonyl-CoA carboxylase 1 deficiencyLikely benign
(Jul 14, 2022)
criteria provided, single submitter
71.
GRCh37:
Chr3:182789139
GRCh38:
Chr3:183071351
MCCC13-methylcrotonyl-CoA carboxylase 1 deficiencyLikely benign
(Jul 5, 2022)
criteria provided, single submitter
72.
GRCh37:
Chr3:182775102
GRCh38:
Chr3:183057314
MCCC13-methylcrotonyl-CoA carboxylase 1 deficiencyLikely benign
(Dec 28, 2021)
criteria provided, single submitter
73.
GRCh37:
Chr3:182737986
GRCh38:
Chr3:183020198
MCCC1L528V, L637V, L520V3-methylcrotonyl-CoA carboxylase 1 deficiencyUncertain significance
(Feb 21, 2022)
criteria provided, single submitter
74.
GRCh37:
Chr3:182756867
GRCh38:
Chr3:183039079
MCCC1A442S, A325S, A333S3-methylcrotonyl-CoA carboxylase 1 deficiencyUncertain significance
(Dec 23, 2021)
criteria provided, single submitter
75.
GRCh37:
Chr3:182751817
GRCh38:
Chr3:183034029
MCCC1S431L, S439L, S548L3-methylcrotonyl-CoA carboxylase 1 deficiencyUncertain significance
(Aug 31, 2021)
criteria provided, single submitter
76.
GRCh37:
Chr3:182812398
GRCh38:
Chr3:183094610
MCCC13-methylcrotonyl-CoA carboxylase 1 deficiencyLikely benign
(Oct 20, 2022)
criteria provided, single submitter
77.
GRCh37:
Chr3:182755136
GRCh38:
Chr3:183037348
MCCC13-methylcrotonyl-CoA carboxylase 1 deficiencyLikely benign
(Sep 15, 2022)
criteria provided, single submitter
78.
GRCh37:
Chr3:182775144-182775145
GRCh38:
Chr3:183057356-183057357
MCCC13-methylcrotonyl-CoA carboxylase 1 deficiencyPathogenic
(Aug 19, 2022)
criteria provided, single submitter
79.
GRCh37:
Chr3:182789010
GRCh38:
Chr3:183071222
MCCC13-methylcrotonyl-CoA carboxylase 1 deficiencyLikely benign
(Aug 9, 2022)
criteria provided, single submitter
80.
GRCh37:
Chr3:182759379
GRCh38:
Chr3:183041591
MCCC13-methylcrotonyl-CoA carboxylase 1 deficiencyLikely benign
(Jul 24, 2022)
criteria provided, single submitter
81.
GRCh37:
Chr3:182743542
GRCh38:
Chr3:183025754
MCCC13-methylcrotonyl-CoA carboxylase 1 deficiencyLikely pathogenic
(Jul 23, 2022)
criteria provided, single submitter
82.
GRCh37:
Chr3:182790252
GRCh38:
Chr3:183072464
MCCC1L132fs, L23fs3-methylcrotonyl-CoA carboxylase 1 deficiencyPathogenic
(Jul 19, 2022)
criteria provided, single submitter
83.
GRCh37:
Chr3:182743573
GRCh38:
Chr3:183025785
MCCC13-methylcrotonyl-CoA carboxylase 1 deficiencyLikely benign
(Jun 27, 2022)
criteria provided, single submitter
84.
GRCh37:
Chr3:182755094
GRCh38:
Chr3:183037306
MCCC13-methylcrotonyl-CoA carboxylase 1 deficiencyLikely benign
(Jun 8, 2022)
criteria provided, single submitter
85.
GRCh37:
Chr3:182743553
GRCh38:
Chr3:183025765
MCCC1Y574C, Y457C, Y465C3-methylcrotonyl-CoA carboxylase 1 deficiencyUncertain significance
(Jun 19, 2022)
criteria provided, single submitter
86.
GRCh37:
Chr3:182775212
GRCh38:
Chr3:183057424
MCCC13-methylcrotonyl-CoA carboxylase 1 deficiencyPathogenic
(May 27, 2022)
criteria provided, single submitter
87.
GRCh37:
Chr3:182810210
GRCh38:
Chr3:183092422
MCCC1M87R3-methylcrotonyl-CoA carboxylase 1 deficiencyUncertain significance
(Aug 9, 2022)
criteria provided, single submitter
88.
GRCh37:
Chr3:182756865
GRCh38:
Chr3:183039077
MCCC13-methylcrotonyl-CoA carboxylase 1 deficiencyLikely benign
(Jun 23, 2022)
criteria provided, single submitter
89.
GRCh37:
Chr3:182810340
GRCh38:
Chr3:183092552
MCCC13-methylcrotonyl-CoA carboxylase 1 deficiencyLikely benign
(Sep 19, 2022)
criteria provided, single submitter
90.
GRCh37:
Chr3:182769947
GRCh38:
Chr3:183052159
MCCC1G210R, G202R, G319R3-methylcrotonyl-CoA carboxylase 1 deficiencyUncertain significance
(Mar 11, 2022)
criteria provided, single submitter
91.
GRCh37:
Chr3:182756798
GRCh38:
Chr3:183039010
MCCC13-methylcrotonyl-CoA carboxylase 1 deficiencyLikely benign
(Mar 29, 2022)
criteria provided, single submitter
92.
GRCh37:
Chr3:182788992
GRCh38:
Chr3:183071204
MCCC13-methylcrotonyl-CoA carboxylase 1 deficiencyUncertain significance
(Feb 23, 2022)
criteria provided, single submitter
93.
GRCh37:
Chr3:182790279
GRCh38:
Chr3:183072491
MCCC13-methylcrotonyl-CoA carboxylase 1 deficiencyLikely benign
(Jul 19, 2022)
criteria provided, single submitter
94.
GRCh37:
Chr3:182756941
GRCh38:
Chr3:183039153
MCCC13-methylcrotonyl-CoA carboxylase 1 deficiencyLikely benign
(May 9, 2022)
criteria provided, single submitter
95.
GRCh37:
Chr3:182789015
GRCh38:
Chr3:183071227
MCCC1R208fs, R91fs, R99fs3-methylcrotonyl-CoA carboxylase 1 deficiencyPathogenic
(Apr 10, 2022)
criteria provided, single submitter
96.
GRCh37:
Chr3:182775223
GRCh38:
Chr3:183057435
MCCC13-methylcrotonyl-CoA carboxylase 1 deficiencyLikely benign
(Mar 2, 2022)
criteria provided, single submitter
97.
GRCh37:
Chr3:182763347
GRCh38:
Chr3:183045559
MCCC13-methylcrotonyl-CoA carboxylase 1 deficiencyLikely benign
(Jul 18, 2022)
criteria provided, single submitter
98.
GRCh37:
Chr3:182751841
GRCh38:
Chr3:183034053
MCCC1S431N, S423N, S540N3-methylcrotonyl-CoA carboxylase 1 deficiencyUncertain significance
(Feb 12, 2022)
criteria provided, single submitter
99.
GRCh37:
Chr3:182770005
GRCh38:
Chr3:183052217
MCCC13-methylcrotonyl-CoA carboxylase 1 deficiencyLikely benign
(Jan 11, 2022)
criteria provided, single submitter
100.
GRCh37:
Chr3:182737925
GRCh38:
Chr3:183020137
MCCC1I548T, I657T, I540T3-methylcrotonyl-CoA carboxylase 1 deficiencyUncertain significance
(May 8, 2022)
criteria provided, single submitter
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