All variants in the RPE65 gene

This database is one of the "Eye disease" gene variant databases.
Information The variants shown are described using the NM_000329.2 transcript reference sequence.

1478 entries on 15 pages. Showing entries 1 - 100.
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Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Classification method     

Clinical classification     

DNA change (genomic) (hg19)     

DNA change (hg38)     

Published as     

ISCN     

DB-ID     

Variant remarks     

Reference     

ClinVar ID     

dbSNP ID     

Origin     

Segregation     

Frequency     

Re-site     

VIP     

Methylation     

Owner     
+?/. - c.(?_-1)_1128+1_1129-1)del r.spl p.(?) - likely pathogenic g.? g.? Allele 1 c.(?_-1)_(1128+1_1129���������1)del, Allele 2 c - NPHS2_000000 homozygous PubMed: Khan 2019 - - Germline/De novo (untested) ? - - 0 - LOVD
-/. - c.? r.(?) p.? - benign g.? - gi3077820:IVS12+20A>C - NPHS2_000000 - PubMed: Morimura 1998; PubMed: Booij 2005 - - Germline - - - 0 - Julia Lopez
-/. - c.? r.(?) p.? - benign g.? - gi3077820:1056G>A - NPHS2_000000 - PubMed: Morimura 1998; PubMed: Booij 2005 - - Germline - - - 0 - Julia Lopez
+/. - c.? r.? p.? - pathogenic (dominant) g.? - Asp477Gly - NPHS2_000000 - PubMed: Daiger 2014 - - Germline - - - 0 - LOVD
+?/. - c.-330_1128+252del r.spl p.(?) - likely pathogenic g.68903618_68915918del g.68437935_68450235del RPE65 chr1:68903619_68915919del - RPE65_000318 start loss, range 11717-92433 bp in various techniques, homozygous PubMed: Zampaglione-2020 - - Unknown ? - - 0 - LOVD
?/? 1 c.-4G>A r.(?) p.(?) - VUS g.68915592C>T g.68449909C>T IVS1(-4) G>A - RPE65_000137 unknown variant 2ndchromosome PubMed: Dharmaraj 2000 - - Germline yes 1/100 cases - 0 - Muhammad Ajmal
+/. - c.(879_887)? r.(?) p.(Lys294ins?) - pathogenic (recessive) g.(68904736_68904744)? g.(68439053_68439061)? Lys294ins? - RPE65_000000 - PubMed: Chung 2019 - - Germline - - - 0 - LOVD
+?/. _1_14_ c.-54_*952{0} r.? p.? - likely pathogenic (recessive) g.(?_68895454)_(68915593_?)del - c.(?_-1)_(*1_?)del - RPE65_000320 - PubMed: Ellingsford 2018 - - Germline - - - 0 - LOVD
+/. - c.11+2T>V r.spl p.? - pathogenic (recessive) g.68915576A>B g.68449893A>B c.11+2T>? - RPE65_000000 - PubMed: Chung 2019 - - Germline - - - 0 - LOVD
?/? 1 c.2T>C r.(?) p.(Met1?) - VUS g.68915587A>G g.68449904A>G 56T->c, M1T - RPE65_000136 - PubMed: Thompson 2000 - - Germline yes - HpyCH4IV+ 0 - Muhammad Ajmal
?/? 1 c.2T>C r.(?) p.(Met1?) - VUS g.68915587A>G g.68449904A>G - - RPE65_000136 - PubMed: Morimura 1998 - - Germline yes - HpyCH4IV+ 0 - Muhammad Ajmal
?/? 1 c.2T>C r.(?) p.(Met1?) - VUS g.68915587A>G g.68449904A>G - - RPE65_000136 - PubMed: Morimura 1998 - - Germline yes - HpyCH4IV+ 0 - Muhammad Ajmal
+?/. - c.10del r.(?) p.(Gln4Argfs*27) - likely pathogenic g.68915579del g.68449896del c.10delC - RPE65_000205 - PubMed: Holtan 2020 - - Germline - 1/899 cases - 0 - Global Variome, with Curator vacancy
+/+ 1i c.11+1G>T r.spl p.? - pathogenic (recessive) g.68915577C>A g.68449894C>A - - RPE65_000135 - PubMed: Jacobson 2012 - - Germline yes - - 0 - Muhammad Ajmal
+?/. - c.11+2T>G r.spl p.? - likely pathogenic (recessive) g.68915576A>C g.68449893A>C - - RPE65_000204 - PubMed: Holtan 2020 - - Germline - 2/899 cases - 0 - Global Variome, with Curator vacancy
+?/+? 1i c.11+5G>A r.spl p.? - likely pathogenic (recessive) g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Ripamonti 2014 - - Germline yes 2/18 chromosomes - 0 - Muhammad Ajmal
+?/+? 1i c.11+5G>A r.spl p.? - likely pathogenic (recessive) g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Ripamonti 2014 - - Germline yes 2/18 chromosomes - 0 - Muhammad Ajmal
+?/+? 1i c.11+5G>A r.spl p.? - likely pathogenic (recessive) g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Jacobson 2012 - - Germline yes - - 0 - Muhammad Ajmal
+?/+? 1i c.11+5G>A r.spl p.? - likely pathogenic (recessive) g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Schatz 2011 - - Germline yes 2/8 chromosomes ? 0 - Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? - VUS g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Coppieters 2010 - - Germline yes 2/91 cases - 0 - Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? - VUS g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Coppieters 2010 - - Germline yes 2/91 cases - 0 - Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? - VUS g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Pasadhika 2010 - - Germline yes - - 0 - Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? - VUS g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Pasadhika 2010 - - Germline yes - - 0 - Muhammad Ajmal
+?/+? 1i c.11+5G>A r.spl p.? - likely pathogenic (recessive) g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Galvin 2005 - - Germline yes 2/110 cases - 0 - Muhammad Ajmal
+?/+? 1i c.11+5G>A r.spl p.? - likely pathogenic (recessive) g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Galvin 2005 - - Germline yes 2/110 cases - 0 - Muhammad Ajmal
+/+ 1i c.11+5G>A r.spl p.? - pathogenic (recessive) g.68915573C>T g.68449890C>T - - RPE65_000058 no second chromosome; uniparental isodisomy PubMed: Thompson 2002 - - Uniparental disomy, paternal allele - - - 0 - Muhammad Ajmal
+/+ 1i c.11+5G>A r.spl p.? - pathogenic (recessive) g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Thompson 2002 - - Germline - - - 0 - Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? - VUS g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Weleber 2011 - - Germline yes - - 0 - Muhammad Ajmal
+?/+? 1i c.11+5G>A r.spl p.? - likely pathogenic (recessive) g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Jacobson 2009 - - Germline - - - 0 - Muhammad Ajmal
+?/+? 1i c.11+5G>A r.spl p.? - likely pathogenic (recessive) g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Jacobson 2009 - - Germline - - - 0 - Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? - VUS g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Booij 2005 - - Germline yes - ? 0 - Muhammad Ajmal
+?/+? 1i c.11+5G>A r.spl p.? - likely pathogenic (recessive) g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Jacobson 2005 - - Germline yes - - 0 - Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? - VUS g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Hanein 2004 - - Germline yes - - 0 - Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? - VUS g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Yzer 2003 - - Germline yes - - 0 - Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? - VUS g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Felius 2002 - - Germline yes - - 0 - Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? - VUS g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Felius 2002 - - Germline yes - - 0 - Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? - VUS g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Simovich 2001 - - Germline yes - - 0 - Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? - VUS g.68915573C>T g.68449890C>T IVS1+5G>A - RPE65_000058 - PubMed: Thompson 2000 - - Germline yes - - 0 - Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? - VUS g.68915573C>T g.68449890C>T IVS1+5G>A - RPE65_000058 - PubMed: Thompson 2000 - - Germline yes - - 0 - Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? - VUS g.68915573C>T g.68449890C>T IVS1+5G>A - RPE65_000058 - PubMed: Thompson 2000 - - Germline yes - - 0 - Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? - VUS g.68915573C>T g.68449890C>T IVS1+5G>A - RPE65_000058 - PubMed: Thompson 2000 - - Germline yes - - 0 - Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? - VUS g.68915573C>T g.68449890C>T IVS1+5G>A - RPE65_000058 - PubMed: Thompson 2000 - - Germline yes - - 0 - Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? - VUS g.68915573C>T g.68449890C>T IVS1+5G>A - RPE65_000058 - PubMed: Thompson 2000 - - Germline yes - - 0 - Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? - VUS g.68915573C>T g.68449890C>T IVS1+5G->A - RPE65_000058 - PubMed: Lorenz 2000, PubMed: Lorenz 2004 - - Germline yes - - 0 - Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? - VUS g.68915573C>T g.68449890C>T IVS1+5G>A - RPE65_000058 - PubMed: Lorenz 2000, PubMed: Lorenz 2004 - - Germline yes - - 0 - Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? - VUS g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Lotery 2000 - - Germline yes - - 0 - Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? - VUS g.68915573C>T g.68449890C>T - - RPE65_000058 unknown variant 2ndchromosome PubMed: Lotery 2000 - - Germline - - - 0 - Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? - VUS g.68915573C>T g.68449890C>T 65 + 5g>a - RPE65_000058 - PubMed: Lotery 2000 - - Unknown yes - - 0 - Muhammad Ajmal
+?/. 1i c.11+5G>A r.spl p.? - VUS g.68915573C>T g.68449890C>T 65+5G>A - RPE65_000058 - PubMed: Perrault 1999 - - Germline yes - - 0 - Muhammad Ajmal
+?/. 1i c.11+5G>A r.spl p.? - VUS g.68915573C>T g.68449890C>T 65+5G>A - RPE65_000058 - PubMed: Perrault 1999 - - Germline yes - - 0 - Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? - VUS g.68915573C>T g.68449890C>T 65+5G->A - RPE65_000058 - PubMed: Gu 1997 - - Germline yes - - 0 - Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? - VUS g.68915573C>T g.68449890C>T 65+5G->A - RPE65_000058 - PubMed: Gu 1997 - - Germline yes - - 0 - Muhammad Ajmal
+?/+? 1i c.11+5G>A r.spl p.? - likely pathogenic (recessive) g.68915573C>T g.68449890C>T 12+4G>A, SPLICE - RPE65_000058 - PubMed: Henderson 2007 - - Germline yes - - 0 - Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? - VUS g.68915573C>T g.68449890C>T 12+4G>A, SPLICE - RPE65_000058 - PubMed: Henderson 2007 - - Germline yes - - 0 - Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? - VUS g.68915573C>T g.68449890C>T - - RPE65_000058 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - - 0 - Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? - VUS g.68915573C>T g.68449890C>T - - RPE65_000058 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - - 0 - Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? - VUS g.68915573C>T g.68449890C>T - - RPE65_000058 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - - 0 - Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? - VUS g.68915573C>T g.68449890C>T - - RPE65_000058 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - - 0 - Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? - VUS g.68915573C>T g.68449890C>T - - RPE65_000058 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - - 0 - Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? - VUS g.68915573C>T g.68449890C>T - - RPE65_000058 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - - 0 - Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? - VUS g.68915573C>T g.68449890C>T - - RPE65_000058 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - - 0 - Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? - VUS g.68915573C>T g.68449890C>T - - RPE65_000058 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - - 0 - Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? - VUS g.68915573C>T g.68449890C>T - - RPE65_000058 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - - 0 - Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? - VUS g.68915573C>T g.68449890C>T - - RPE65_000058 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - - 0 - Muhammad Ajmal
?/? 1i c.11+5G>A r.spl p.? - VUS g.68915573C>T g.68449890C>T - - RPE65_000058 unknown variant 2ndchromosome PubMed: Stone 2007 - - Germline - - - 0 - Muhammad Ajmal
+/+ 1i c.11+5G>A r.spl p.? - pathogenic (recessive) g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Jacobson 2007 - - Germline - - - 0 - Muhammad Ajmal
+?/. - c.11+5G>A r.spl? p.? - likely pathogenic g.68915573C>T g.68449890C>T - - RPE65_000058 VKGL data sharing initiative Nederland - - - CLASSIFICATION record - - - 0 - VKGL-NL_Nijmegen
+/. - c.11+5G>A r.spl p.? - pathogenic g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Zenteno 2020 - - Germline - 1/143 cases - 0 - Johan den Dunnen
+/. - c.11+5G>A r.spl? p.? - pathogenic (recessive) g.68915573C>T - 1:68915573C>T ENST00000262340.5:c.11+5G>A - RPE65_000058 - PubMed: Carss 2017 - - Germline - - - 0 - LOVD
+/. - c.11+5G>A r.spl p.? - pathogenic (recessive) g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Hull 2016 - - Germline - - - 0 - LOVD
+/. - c.11+5G>A r.spl p.? - pathogenic (recessive) g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Chung 2019 - - Germline - - - 0 - LOVD
+/. - c.11+5G>A r.spl p.? - pathogenic (recessive) g.68915573C>T g.68449890C>T 1590delC - RPE65_000058 - PubMed: Chung 2019 - - Germline - - - 0 - LOVD
+/. - c.11+5G>A r.spl p.? - pathogenic (recessive) g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Chung 2019 - - Germline - - - 0 - LOVD
+/. - c.11+5G>A r.spl p.? - pathogenic (recessive) g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Chung 2019 - - Germline - - - 0 - LOVD
+/. - c.11+5G>A r.spl p.? - pathogenic (recessive) g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Chung 2019 - - Germline - - - 0 - LOVD
+/. - c.11+5G>A r.spl p.? - pathogenic (recessive) g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Chung 2019 - - Germline - - - 0 - LOVD
+/. - c.11+5G>A r.spl p.? - pathogenic (recessive) g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Chung 2019 - - Germline - - - 0 - LOVD
+/. - c.11+5G>A r.spl p.? - pathogenic (recessive) g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Chung 2019 - - Germline - - - 0 - LOVD
+/. - c.11+5G>A r.spl p.? - pathogenic (recessive) g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Chung 2019 - - Germline - - - 0 - LOVD
+/. - c.11+5G>A r.spl p.? - pathogenic (recessive) g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Chung 2019 - - Germline - - - 0 - LOVD
+/. - c.11+5G>A r.spl p.? - pathogenic (recessive) g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Pierrache 2020 - - Germline - - - 0 - LOVD
+/. - c.11+5G>A r.spl p.? - pathogenic (recessive) g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Pierrache 2020 - - Germline - - - 0 - LOVD
+/. - c.11+5G>A r.spl p.? - pathogenic (recessive) g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Pierrache 2020 - - Germline - - - 0 - LOVD
+/. - c.11+5G>A r.spl p.? - pathogenic (recessive) g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Pierrache 2020 - - Germline - - - 0 - LOVD
+/. - c.11+5G>A r.spl p.? - pathogenic (recessive) g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Pierrache 2020 - - Germline - - - 0 - LOVD
+/. - c.11+5G>A r.spl p.? - pathogenic (recessive) g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Pierrache 2020 - - Germline - - - 0 - LOVD
+/. - c.11+5G>A r.spl p.? - pathogenic (recessive) g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Pierrache 2020 - - Germline - - - 0 - LOVD
+?/. - c.11+5G>A r.spl p.? - likely pathogenic g.68915573C>T g.68449890C>T IVS1+5G>A - RPE65_000058 - PubMed: Stone 2017 - - Germline - - - 0 - LOVD
+?/. - c.11+5G>A r.spl p.? - likely pathogenic g.68915573C>T g.68449890C>T IVS1+5G>A - RPE65_000058 - PubMed: Stone 2017 - - Germline - - - 0 - LOVD
+/. - c.11+5G>A r.spl? p.? - pathogenic g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Haer-Wigman 2017 - - Germline yes - - 0 - LOVD
+/. - c.11+5G>A r.spl p.? - pathogenic (recessive) g.68915573C>T g.68449890C>T - - RPE65_000058 - PubMed: Van Huet 2015 - - Germline - - - 0 - LOVD
+?/. 1i c.11+5G>A r.spl p.(?) ACMG likely pathogenic g.68915573C>T g.68449890C>T - - RPE65_000058 - Tracewska 2021, MolVis in press - - Germline yes 0,0002 (in-house database, ~5000 samples) - 0 - LOVD
+?/. - c.11+5G>A r.spl? p.(?) - likely pathogenic g.68915573C>T g.68449890C>T RPE65, variant 1: c.11+5G>A/p.?, variant 2: c.725+2T>A/p.? - RPE65_000058 solved, compound heterozygous PubMed: Weisschuh 2020 - - Germline yes - - 0 - LOVD
+?/. - c.11+5G>A r.spl? p.(?) - likely pathogenic g.68915573C>T g.68449890C>T RPE65, variant 1: c.11+5G>A/p.?, variant 2: c.130C>T/p.R44* - RPE65_000058 solved, compound heterozygous PubMed: Weisschuh 2020 - - Unknown ? - - 0 - LOVD
+?/. - c.11+5G>A r.spl? p.(?) - likely pathogenic g.68915573C>T g.68449890C>T RPE65 c.11+5G>A, - RPE65_000058 heterozygous PubMed: Turro 2020 - - Germline/De novo (untested) ? - - 0 - LOVD
?/. - c.11+5G>A r.spl p.(?) - VUS g.68915573C>T g.68449890C>T RPE65 nucleotide 1, protein 1:c.11+5G>A, p.? - RPE65_000058 homozygous, ACMG unclassified - no access to supplementary table 2 PubMed: Hull 2020 - - Germline ? - - 0 - LOVD
?/. - c.11+5G>A r.spl? p.(?) ACMG VUS g.68915573C>T g.68449890C>T RPE65 c.11+SG>A; p.? - RPE65_000058 heterozygous PubMed: Sallum 2020 - - Unknown ? - - 0 - LOVD
+?/. - c.11+5G>A r.spl? p.(?) - likely pathogenic g.68915573C>T g.68449890C>T RPE65 IVS1+5g>A - RPE65_000058 heterozygous PubMed: Preising 2007 - - Unknown ? - - 0 - LOVD
+?/. - c.11+5G>A r.spl? p.(?) - likely pathogenic g.68915573C>T g.68449890C>T RPE65 IVS1+5g>a - RPE65_000058 heterozygous PubMed: Preising 2007 - - Germline yes - - 0 - LOVD
+?/. - c.11+5G>A r.spl? p.(?) - likely pathogenic g.68915573C>T g.68449890C>T RPE65 IVS1+5g>A - RPE65_000058 heterozygous PubMed: Preising 2007 - - Germline yes - - 0 - LOVD
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