martes, 29 de octubre de 2013

Lista de genes que se pueden analizar en el Laboratorio de Referencia del Instituto de Medicina Genómica (29 de octubre de 2013)

A continuación se muestra una lista exhaustiva de los genes que se pueden analizar en el Laboratorio de Referencia de diagnóstico genético del Instituto de Medicina Genómica. Este listado está actualizado a fecha 29 de octubre de 2013 en incluye un total de 1.141 genes.

Es importante destacar que este listado está en constante crecimiento, ya que los laboratorios de Genética Médica del Instituto desarrollan diariamente nuevos tests de diagnóstico genético molecular. El listado incluye, además, la referencia OMIM, lo que permite acceder a la información médica disponible sobre cada uno de estos genes.

Por, ultimo, conviene señalar que se puede obtener un listado actualizado de todos los genes (y enfermedades genéticas) analizables, además de un buscador de genes y enfermedades, en la siguiente dirección web:

Servicios de Diagnóstico Genético del Instituto de Medicina Genómica




LISTA DE GENES

TOTAL=1141


GenOMIM
ABCA1*600046
ABCA12*607800
ABCA3*601615
ABCA4*601691
ABCB11*603201
ABCB4*171060
ABCC2*601107
ABCC6*603234
ABCC8*600509
ABCC9*601439
ABCD1*300371
ABCG5*605459
ABCG8*605460
ABO+110300
ACAD8*604773
ACADM*607008
ACADS*606885
ACADVL*609575
ACAT1%2A+607809
ACOX1*609751
ACP5*171640
ACTA1*102610
ACTA2*102620
ACTC+102540
ACTC1*102540
ACTN4*604638
ACVR2B*602730
ACVRL1*601284
ADA*608958
ADAMTS10*608990
ADAMTS13*604134
ADAMTS2*604539
ADAMTSL2*612277
ADAMTSL4*610113
AGL*610860
AGPAT2*603100
AGRN*103320
AGXT*604285
AHI1*608894
AICDA*605257
AIRE*607358
AKT3*611223
ALDB*612724
ALDH3A2*609523
ALDH4A1*606811
ALDH5A1*610045
ALDH7A1*107323
aldl*107323
ALDOB*612724
ALG6*604566
ALK*105590
ALMS1*606844
ALOX12B*603741
ALOXE3*607206
ALPL*171760
ALX1*601527
ALX3*606014
ALX4*605420
AMELX*300391
AMH*600957
AMHR2*600956
AMT*238310
ANG*105850
ANK1*612641
ANKH*605145
ANO5*608662
ANTXR2608041
AP3B1*603401
AP4E1*607244
APC*611731
APOA4107690
APOA5*606368
APOB107730
APOC2*608083
APOC3*107720
APOE107741
APP104760
APTX*606350
AQP2*107777
AR*313700
ARG1*608313
ARHGAP31*610911
ARID1A*603024
ARID1B*614556
ARID1B *614556
ARL13B*608922
ARSA*607574
ARSB*611542
ARSE*300180
ARX*300382
ASAH1*300382
ASPA*608034
ASPM*605481
ASS1*603470
ATM*607585
ATN1*607462
ATP13A2*610513
ATP1A2*182340
ATP1A3*182350
ATP2A2*108740
ATP6AP2*300556
ATP6V0A2*611716
ATP6V0A4*605239
ATP7A*300011
ATP7B*606882
ATP8B1*602397
ATR*601215
ATRX*300032
ATXN1*601556
ATXN10*611150
ATXN2*601517
ATXN3*607047
ATXN7*607640
ATXN8OS*603680
AVP*192340
AVPR2*300538
B3GALTL*610308
BBS1*209901
BBS10*610148
BBS2*606151
BCHE+177400
BCKDHA*608348
BCKDHB*248611
BCL1/CCND1*168461
BCL2*151430
BCOR*300485
BEST1*607854
BIN1*601248
BMP15*300247
BMP4*112262
BMPR1A*601299
BMPR2*600799
BRAF*600799
BRCA1*113705
BRCA2*600185
BSCL2*606158
BSND*606412
BTD*609019
C10orf2*606075
C3*120700
CA2*611492
CACNA1A*601011
CACNA1C*114205
CACNA1S*114208
CACNB4601949
CANT1%2A+613165
CAPN3*114240
CARTPT*602606
CASP10*601762
CASQ2*114251
CASR*601199
CAV3+601253
CBL*165360
CBS*613381
CC2D2A*612013
CCM2*607929
CD46+120920
CD96*606037
CDAN1*607465
CDC73*607393
CDH1192090
CDH23*605516
CDH3*114021
CDK4*123829
CDKL5*300203
CDKN1B*600778
CDKN1C (p57)*600778
CDKN2A*600160
CDKNC1C (p57)*600856
CDON*608707
CEP290*610142
CFB*138470
CFC1*605194
CFH*134370
CFHR5*608593
CFI*217030
CFL2*601443
CFTR*602421
CHAT*118490
CHD7*608892
CHM*300390
Chr 14*309550
Chr 7*300005
CHRNA1*100690
CHRNA2*118502
CHRNA4*118504
CHRNB2*118507
CHRND*100720
CHRNE*100725
CHRNG*100730
CHST14*608429
CHST3*603799
CHX10*142993
CIITA*600005
CISD2*611507
CLCN1*118425
CLCN5*300008
CLCN7*602727
CLCNKA*602024
CLCNKB*602023
CLN3*607042
CLN5*608102
CLN6*606725
CLN8*607837
CLRN1*606397
CNGA3*600053
CNGB3*605080
COCH*603196
COL10A1*120110
COL11A1*120280
COL11A2*120290
COL17A1*113811
COL1A1120150
COL1A2*120160
COL2A1120140
COL3A1*120180
COL4A1*120130
COL4A3*120070
COL4A4*120131
COL4A5*303630
COL5A1*120215
COL5A2*120190
COL5A3*120216
COL6A1*120220
COL6A2*120240
COL6A3*120250
COL7A1*120120
COL9A1120210
COL9A2*120260
COL9A3*120270
COLQ*603033
COMP*600310
COX4I2*607976
CP*117700
CPOX*612732
CPT1A*600528
CPT2*600650
CREBBP*600140
CRH*122560
CRTAP*605497
CRX*602225
CSF1R*164770
CSF2RA*306250
CST3*604312
CSTB*601145
CTNNB1*116806
CTNS*606272
CTRC*601405
CTSA*613111
CTSC*602365
CTSD*116840
CTSK*601105
CYBA*608508
CYBB*300481
CYP11B1*610613
CYP11B2*124080
CYP19A1*107910
CYP1B1*601771
CYP21A2*613815
CYP27A1*606530
CYP27B1*609506
CYP4F22*611495
D2HGDH*609186
DARS2*610956
DCK*125450
DCLRE1C*605988
DCX*300121
DES*125660
DGUOK*601465
DHCR7*602858
DHH*605423
DISP1*607502
DJ1*602533
DKC1*300126
DLL1*606582
DLL3*602768
DMD*300377
DMPK*605377
DNAH11*603339
DNAH5*603335
DNAI1*604366
DNASE1*125505
DNM2*602378
DOCK6*614194
DOCK8*611432
DOK7*610285
DPYD*612779
DRD2*126450
DRD3*126451
DSC2*125645
DSG1*125670
DSG2*125671
DSP*125647
DSPP*125485
DTNA*601239
DYNC2H1*603297
DYSF*603009
DYT1*605204
EBP*300205
EDA*300451
EDAR*604095
EDARADD*606603
EFEMP1*601548
EFEMP2*604633
EFHC1*608815
EFNB1*300035
EGFR*131550
EGR2*129010
EIF2AK3*604032
EIF2B1*606686
EIF2B2*606454
EIF2B3*606273
EIF2B4*606687
EIF2B5*603945
ELA2*130130
ELANE*130130
ELN*130160
ELOVL4*605512
EMD*300384
ENG*131195
ENPP1*173335
EPB42*177070
EPCAM*185535
EPOR*133171
ERCC6*609413
ERCC8*609412
ETFA*608053
ETFB*130410
ETFDH*231675
ETHE1*608451
EVC*604831
EVC2*607261
EXT1*608177
EXT2*608210
EYA1*601653
EYA4*603550
EZH2*601573
F12*610619
F13A1*134570
F13B*134580
F2176930
F5*612309
F7*613878
F8306700
F9300746
FA2H*611026
FAH*613871
FAM126A*610531
FANCA*607139
FANCB*300515
FANCC*613899
FANCG%2A+602956
FAS*134637
FASLG*134638
FBLN5*604580
FBN1*134797
FBN2*612570
FBP1*611570
FECH*612386
FGA*134820
FGB*134830
FGD1+300546
FGF23*605380
FGF8*600483
FGF9*600921
FGFR1*136350
FGFR2*176943
FGFR3*134934
FGG*134850
FGRF1*136350
FH*136850
FHL1*300163
FII176930
FKRP*606596
FKTN*607440
FLCN*607273
FLG*135940
FLNA*300017
FLNB*603381
FLT4*136352
FMO3*136132
FMR1*309550
FNLA*300017
FOLR1*136430
FOXC1*601090
FOXC2*602402
FOXG1*164874
FOXH1*603621
FOXL2*605597
FOXP3*300292
FRAS1*607830
FREM*608945
FRMD7*300628
FSHR*136435
FTH1+134770
FTL*134790
FUS*137070
FV*612309
FXN*606829
FZD4*604579
G 4.5*300394
G6PC+232200
G6PD+305900
GAA*606800
GABRA1*137160
GABRD*137163
GABRG2*137164
GALC*606890
GALE*606953
GALK1*604313
GALNS*612222
GALNT3*601756
GALT*606999
GAMT*601240
GAN*605379
GARS*600287
GAS*137250
GATA1*305371
GATA2*137295
GATA3*131320
GBA*606463
GBE1*607839
GCDH*608801
GCH1*600225
GCK*138079
GCSH*238330
GDAP1*606598
GDF3*606522
GDF5*601146
GDF6*601147
GFAP*137780
GH1*139250
GHR*600946
GHRHR*139191
GJA1121014
GJB1*304040
GJB2 (Conexina 26)*121011
GJB3+603324
GJB4+603324
GJB6 (Conexina 30)*604418
GJC2*608803
GLA*300644
GLB1*611458
GLDC*238300
GLE1*603371
GLI2*165230
GLI3*165240
GLIS2*608539
GLRA1*138491
GLRB*138492
GLUD1*138130
GLYPICAN1*600395
GM2A%2A+613109
GNAS+139320
GNAT2*139340
GNPTAB*607840
GNRHR*138850
GNS*607664
GPC3*300037
GPIHBP1*612757
GPR143*300808
GPR56*604110
GRK1*180381
GRN*138945
GSS*601002
GUCY2D*600179
HADHA*600890
HADHB*143450
HARS*142810
HAX1*605998
HBA*141850
HBB141900
HD*613004
HES7*608059
HESX1*601802
HEXA*606869
HEXB*606873
HFE235200
HGD607474
HGSNAT*610453
HK1*142600
HLXB9*142994
HMBS*609806
HNF1A*142410
HNF4*600281
HOGA1*613597
HOXD13*142989
HPGD*601688
HPRT1*308000
HR*602302
HRAS*190020
HSD11B2+218030
HSD17B4*601860
HSD3B2*613890
HSPB1*602195
HSPB8*608014
HSPG2*142461
HTRA1*602194
HTT*613004
HYLS1*610693
ICOS*604558
IDS*300823
IDUA*252800
IFRD1*603502
IFT80*611177
IGF1*147440
IGHMBP2*600502
IKBKAP*603722
IKBKG*300248
IL2RG*308380
IMPDH1*146690
INPP5E*613037
INS*176730
INSR*147670
IRF6*607199
ITGA2B*607759
ITGB2*600065
ITGB3*173470
ITGB4*147557
ITM2B 603904
IVD*607036
JAG1601920
JAK2147796
JAK3*600173
JUP*173325
KAL1308700
KANSL1*612452
KAT6B*605880
KCNA1*176260
KCND3*605411
KCNE1+176261
KCNE2+603796
KCNH2+152427
KCNJ1*600359
KCNJ10*602208
KCNJ11*600937
KCNJ2*600681
KCNQ1*607542
KCNQ2*602235
KCNQ3*602232
KHDC3L*611687
KIF1A*601255
KIF1B*605995
KIF21A*608283
KIF5A602821
KIF7*611254
KIT*164920
KL*604824
KRAS*190070
KRIT1*604214
KRT1*139350
KRT10*148080
KRT14*148066
KRT16*148067
KRT17*148069
KRT2*600194
KRT5*148040
KRT6A*148041
KRT6B*148042
KRT81*602153
KRT86*601928
KRT9*607606
L1CAM*308840
LAMA2*156225
LAMA3*600805
LAMB2*150325
LAMB3*150310
LAMC2*150292
LARGE*603590
LCAT*606967
LCT*603202
LDB3*605906
LDLR*606945
LDLRAP1*605747
LEFTY2+601877
LEMD3*607844
LEP164160
LEPR+601007
LEPRE 1*610339
LEPRE1*610339
LFNG*602576
LGI1*604619
LHCGR*152790
LHX3*600577
LHX4*602146
LIPA*613497
LIPI%2A+609252
LITAF*603795
LMBRD1*612625
LMNA*150330
LMNB2*150341
LMX1B*602575
LOR*152445
LPIN1*605518
LPL*609708
LRAT*604863
LRP5*603506
LRRK2*609007
LTBP2*602091
LYST*606897
MAN2B1*609458
MAP2K1*176872
MAP2K2*601263
MAPK10*602897
MAPT*157140
MAT1A*610550
MATN3*602109
MBTPS2*300294
MC3R*155540
MC4R*155541
MCEE*608419
MCM6*601806
MCP*120920
MCPH1*607117
MECP2*300005
MED12*300188
MEFV*608107
MEN1+131100
MEOX1*600147
MESP2*605195
MET*164860
MFN2*608507
MFRP*606227
MFSD8*611124
MID1*300552
MITF*156845
MKKS*604896
MKS1*609883
MLC1*605908
MLH1*120436
MLL2*602113
MMAA*607481
MMAB*607568
MMACHC*609831
MMADHC*611935
MOCS2*603708
MPI*154550
MPL*159530
MPV17*137960
MPZ*159440
MR1*609023
MSH2*609309
MSH6600678
MSX2*123101
MTAP6516060
MTATP6516060
MTCO1*516030
MTHFR*607093
MTM1*300415
MTMR14*611089
MTMR2*603557
MTND1*516000
MTND4*516003
MTND5*516005
MTND6*516006
MTR*156570
MTRNR1*561000
MT-RNR1*561000
MTTH*590040
MTTK*590060
MTTL1*590050
MT-TS1*590080
MUT*609058
MVK*251170
MYBPC3*600958
MYCN*164840
MYH*604933
MYH11*160745
MYH3*160720
MYH6*160710
MYH7160760
MYH8%2A+160741
MYH9*160775
MYL2*150330
MYL3*160790
MYO5A*160777
MYO7A*276903
MYOC*601652
MYOT*604103
NAGLU*609701
NAIP*600355
NALP12*609648
NBN*602667
NBS*602667
NCF1*608512
NDE1*609449
NDP*300658
NDRG1*605262
NEFL*162280
NEK8+609799
NEU1*608272
NEUROG3*604882
NF1*613113
NF2*607379
NHS*300457
NIPA1608145
NIPAL4609383
NIPBL*608667
NKX2-1*600635
NKX2-5*600584
NLGN3*300336
NLGN4*300427
NLRP1*606636
NLRP12*609648
NLRP3*606416
NLRP3/CIAS1*606416
NLRP7*609661
NOD2*605956
NODAL*601265
NOG*601265
NOS3*163729
NOTCH1*190198
NOTCH2*600275
NOTCH3*600276
NPC1*607623
NPHP1*607100
NPHP3*608002
NPHP4*607215
NPHS1*602716
NPHS2*604766
NR0B1*300473
NR2E3*604485
NR3C1+138040
NR3C2*600983
NR5A1+184757
NRAS+164790
NSD1*606681
NSDHL*300275
NTNG1*608818
NTRK1*191315
OCA2*611409
OCRL1*300535
OFD1*300170
OPA1*605290
OPA3*606580
OPHN1*300127
OPTN*602432
ORC1*601902
OSTM1*607649
OTC*300461
OTOF*603681
OXCT1*601424
p53*191170
PABPN1*602279
PAFAH1B1*601545
PAH*612349
PAI173360
PAI1*173360
PALB2*610355
PANK2*606157
PARK1*163890
PARK2*602544
PAX2*167409
PAX3*606597
PAX6*607108
PCA3*607108
PCCA*232000
PCCB*232050
PCDH19*300460
PCK1+261680
PCNT*605925
PCSK9*607786
PDCD10*609118
PDE11A*604961
PDE6C*600827
PDE8B*600827
Personalizado*600827
PEX1*602136
PEX10*602859
PEX12*601758
PEX13*601789
PEX14*601791
PEX16*603360
PEX19+600279
PEX2*170993
PEX26*608666
PEX3*603164
PEX5*600414
PEX6*601498
PEX7*601757
PGAM2*612931
PHEX*300550
PHF6*300550
PHKA1*311870
PHKA2*311870
PHKB*172490
PHOX2B*603851
PIGA*311770
PIK3CA*171834
PIK3R2*603157
PINK1*608309
PITX1*602149
PITX2*601542
PKD1601313
PKD2*173910
PKHD1*606702
PKP2*602861
PLA2G6*603604
PLCE1*608414
PLEC1*601282
PLOD1*153454
PLOD2*601865
PLP1*300401
PMM2*601785
PMP22*601097
PMS1+600258
PMS2+600259
PNKD*609023
PNLIP*246600
PNP*164050
PNPLA6*603197
POLG*174763
POLG2*604983
POLR1C*610060
POLR1D*613715
POLR3A*614258
POLR3B*614366
POMC*176830
POMT1*607423
POMT2*607439
POR*124015
POU1F1*173110
PPIB*123841
PPOX*600923
PPP2R2B*604325
PPT1*600722
PRF1*170280
PRG4*604283
PRKAG2*602743
PRKAR1A*188830
PRKCG*176980
PRKCSH*177060
PRKRA*603424
PRNP*176640
PROC*612283
PRODH*606810
PROK2*607002
PROM1*604365
PROP1*601538
PRPH2*179605
PRPS1*311850
PRRT2*614386
PRSS1276000
PRSS56*613858
PRX*605725
PSAP*176801
PSEN1*104311
PSEN2*600759
PSTPIP1*606347
PTCH1*601309
PTEN+601728
PTHLH*168470
PTPN11*176876
PYGL*613741
PYGM*608455
PYY*600781
RAB7A*602298
RAD51C*602774
RAF1*164760
RAG1*179615
RAG2*179616
RAI1*607642
RANBP2*601181
RAPSN*601592
RASA1*139150
RB1180200
RBFOX1*605104
RDH12*608830
RECQL3*604610
RECQL4*603780
RELN*600514
RET164761
RFX5*601863
RFXANK*603200
RFXAP*601861
RIPK4*605706
RLBP1*180090
RMRP*157660
RNASEH2A*606034
RNASEH2B*610326
RNASEH2C*610330
RNU4ATAC*601428
ROBO3*608630
ROR2*602337
RP2+300757
RPE65*180069
RPGR*312610
RPGRIP1L*610937
RPL11*604175
RPL35A*180468
RPL5*603634
RPS10*603632
RPS17*180472
RPS19*603474
RPS24*602412
RPS26*603701
RS1+312700
RSK2*300075
RSPH9*612648
RTN2*603183
RUNX1*151385
RUNX2*600211
RYR1*180901
RYR2*180902
RYR2 (30 exones)*180902
SACS*604490
SAG*181031
SALL1*602218
SALL4*607343
SBDS*607444
SCN1A*182389
SCN1B*600235
SCN2A*182390
SCN4A*603967
SCN5A*600163
SCN8A*600702
SCN9A*603415
SCNA*603415
SCNN1A*600228
SCNN1B*600760
SCNN1G*600761
SDHB*185470
SDHC*602413
SDHD*602690
SEC23B*610512
SEC63*608648
SEDL*300202
SEPN1*606210
SEPT9*604061
SERPINA1107400
SERPING1606860
SETBP1*611060
SETX*608465
SFTPB*178640
SFTPC*178620
SGCA*600119
SGCB*600900
SGCD*601411
SGCE*604149
SGCG*608896
SGSH*605270
SH2D1A*300490
SH3BP2*602104
SH3TC2*608206
SHANK3*606230
SHH*600725
SHOC2*602775
SHOX*312865
SIL1*608005
SIM1*603128
SIX3*603714
SLC12A1*600839
SLC12A3*600968
SLC12A6*604878
SLC19A2*603941
SLC19A3*606152
SLC1A3*600111
SLC25A13*603859
SLC25A22*609302
SLC26A2*606718
SLC26A3*126650
SLC26A4*605646
SLC2A1*138140
SLC2A10*606145
SLC2A2*138160
SLC30A2*609617
SLC34A1*609617
SLC37A4*602671
SLC39A4*607059
SLC3A1*104614
SLC40A1*604653
SLC4A1*109270
SLC4A11*610206
SLC5A1*182380
SLC6A5*604159
SLC6A8*300036
SLC7A9*604144
SLCO1B1*604843
SLCO1B3*605495
SLITRK1*609678
SLURP1*606119
SMAD3*603109
SMAD4*600993
SMARCA2*600014
SMARCA4%2A+603254
SMARCB1*601607
SMC1A*300040
SMC3*606062
SMN1*600354
SMN2*601627
SMPD1*607608
SMS*300105
SNCA*163890
SOD1*147450
SOS1*182530
SOST*605740
SOX2*184429
SOX3*313430
SOX9*608160
SPG11*610844
SPG3A*606439
SPG4*604277
SPG7*602783
SPINK1*167790
SPRED1*609291
SPTA1*182860
SPTAN1*182810
SPTB+182870
SPTBN2*604985
SPTLC1*605712
SPTLC2*605713
SRD5A2*607306
SRPX2*300642
SRY*480000
STAT3*102582
STK11*602216
STK11*602216
STRA6*610745
STS*300747
STX11*605014
STXBP1*602926
STXBP2*601717
SURF1*185620
SYNE1*608441
SYNGAP1*603384
TARDBP*605078
TAZ*300394
TBCE*604934
TBP*600075
TBX5*601620
TCAP*604488
TCF4*602272
TCIRG1*604592
TCN2*613441
TCOF1*606847
TDGF1+187395
TDP43*605078
TECTA*602574
TERC*602322
TERT+187270
TFAP2B*601601
TFR2*604720
TG*188450
TGFB3*190230
TGFBI*601692
TGFBR1*190181
TGFBR2190182
TGFBR3*600742
TGIF*602630
TGM1*190195
TH*191290
THAP1*609520
THRB*190160
TIMM8A*300356
TIMP3*188826
TINF2*127550
TMC6*605828
TMC8*605829
TMEM126A*612988
TMEM216*613277
TMEM67*609884
TMPRSS6*609862
TNFRSF1A*191190
TNFRSF6*191190
TNFSF11*602642
TNN13*602642
TNNC*150330
TNNC1*191040
TNNI3+191044
TNNT2*191045
TNXB*600985
TP53*191170
TP63*603273
TPM1*191010
TPM3*191030
TPMT*187680
TPO*606765
TPP1*607998
TPRS1*607998
TRAPPC2*300202
TREX1*606609
TRIM32*602290
TRIP11*200600
TRPM6*607009
TRPS1*604386
TRPV4*605427
TSC1*605284
TSC2*191092
TSEN54*608755
TSHR603372
TSPAN12 *613138
TTBK2*611695
TTC21B*612014
TTC37*612014
TTID*604103
TTN188840
TTPA*600415
TTR176300
TWIST*601622
TWIST2*607556
TYR606933
UBE3A*601623
UBR1*605981
UCP3*602044
UGT1A1*191740
UMOD*191845
UMPS+258900
UNC13D*608897
UROD*613521
USF1*191523
USH2A+608400
VANGL1*610132
VCL*193065
VHL*608537
VPS13A*605978
VPS13B*607817
VSX1*605020
VWF193400
WAS*300392
WDR19*608151
WDR36*609669
WFS1*606201
WISP3*603400
WNT4*603490
WNT5A*164975
WRN*604611
WT1*607102
WTX*607102
WTX (FAM123B)*300647
WTX(FAM123B)*300647
XDH*607633
XIAP*300079
XK*314850
XPA*611153
XPC*613208
ZEB2*605802
ZFHX1B*605802
ZIC2*603073
ZIC3*300265
ZNF9*116955

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Diagnóstico genético de enfermedades: preguntas y respuestas

Diagnóstico genético de enfermedades: preguntas y respuestas
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