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LOVD - Variant listings for RB1

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?/+ g.78238C>T c.1654C>T substitution 17_ex - p.Arg552X - nonsense RB1_00121 - E2984 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.78238C>T c.1654C>T substitution 17_ex - p.Arg552X - nonsense RB1_00121 - E4464 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.78238C>T c.1654C>T substitution 17_ex - p.Arg552X - nonsense RB1_00121 - E3123 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.78238C>T c.1654C>T substitution 17_ex - p.Arg552X - nonsense RB1_00121 - not provided - germline nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.78238C>T c.1654C>T substitution 17_ex - p.Arg552X - nonsense RB1_00121 - E3686 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.78238C>T c.1654C>T substitution 17_ex - p.Arg552X - nonsense RB1_00121 - not provided unilateral rb somatic nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.78238C>T c.1654C>T substitution 17_ex - p.Arg552X - nonsense RB1_00121 - not provided - - nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.78238C>T c.1654C>T substitution 17_ex - p.Arg552X - nonsense RB1_00121 - E3939 unilateral rb somatic nd DNA LOH isolated Lohmann - Essen 1 unpublished -
?/+ g.78238C>T c.1654C>T substitution 17_ex - p.Arg552X - nonsense RB1_00121 - E4260 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.78238C>T c.1654C>T substitution 17_ex - p.Arg552X - nonsense RB1_00121 - not provided unilateral rb somatic nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.78238C>T c.1654C>T substitution 17_ex - p.Arg552X - nonsense RB1_00121 - E4828 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.78238C>T c.1654C>T substitution 17_ex - p.Arg552X - nonsense RB1_00121 - E286 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.78238C>T c.1654C>T substitution 17_ex - p.Arg552X - nonsense RB1_00121 - not provided unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.78238C>T c.1654C>T substitution 17_ex - p.Arg552X - nonsense RB1_00121 - not provided unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.78238C>T c.1654C>T substitution 17_ex - p.Arg552X - nonsense RB1_00121 - not provided unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.78238C>T c.1654C>T substitution 17_ex - p.Arg552X - nonsense RB1_00121 - not provided - somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.78238C>T c.1654C>T substitution 17_ex - p.Arg552X - nonsense RB1_00121 - not provided unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.78238C>T c.1654C>T substitution 17_ex - p.Arg552X - nonsense RB1_00121 - Fam429 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.78238C>T c.1654C>T substitution 17_ex - p.Arg552X - nonsense RB1_00121 - Fam608 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.78238C>T c.1654C>T substitution 17_ex - p.Arg552X - nonsense RB1_00121 - Fam157 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.78238C>T c.1654C>T substitution 17_ex - p.Arg552X - nonsense RB1_00121 - Fam830 bilateral rb germline nd DNA - - not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.78238C>T c.1654C>T substitution 17_ex - p.Arg552X - nonsense RB1_00121 - Fam652 unilateral rb somatic nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.78238C>T c.1654C>T substitution 17_ex - p.Arg552X - nonsense RB1_00121 - Fam76 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.78238C>T c.1654C>T substitution 17_ex - p.Arg552X - nonsense RB1_00121 - Fam696 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.78238C>T c.1654C>T substitution 17_ex - p.Arg552X - nonsense RB1_00121 - Fam944 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.78238C>T c.1654C>T substitution 17_ex - p.Arg552X - nonsense RB1_00121 - 4u unilateral rb germline blood DNA - isolated - 1 published -
?/+ g.78238C>T c.1654C>T substitution 17_ex - p.Arg552X - nonsense RB1_00121 - 15b bilateral rb germline blood DNA - isolated - 1 published -
?/+ g.78238C>T c.1654C>T substitution 17_ex - p.Arg552X - nonsense RB1_00121 - 16b bilateral rb germline blood DNA - isolated - 1 published -
?/+ g.78238C>T c.1654C>T substitution 17_ex - p.Arg552X - nonsense RB1_00121 - 4u rb germline nd DNA - isolated - 1 - -
?/+ g.78238C>T c.1654C>T substitution 17_ex - p.Arg552X - nonsense RB1_00121 - 15 bilateral rb germline blood DNA - isolated Abouzeid et al. (2007) Mol Vis 13: 1740 1 published -
?/+ g.78238C>T c.1654C>T substitution 17_ex - p.Arg552X - nonsense RB1_00121 - 37 bilateral rb germline blood DNA - isolated Abouzeid et al. (2007) Mol Vis 13: 1740 1 published -
?/+ g.78238C>T c.1654C>T substitution 17_ex - p.Arg552X - nonsense RB1_00121 - not provided bilateral rb germline blood DNA - familial - 1 published -
?/? g.78238C>T c.1654C>T
    + c.100G>T		 substitution 17_ex - p.Arg552X - nonsense RB1_00121 somatic E5344 bilateral rb - tumor + blood DNA heterozygous isolated Germany:Essen 1 unpublished -
+/? g.78238C>T c.1654C>T substitution 17_ex - p.Arg552X - nonsense RB1_00121 - IRB29 bilateral rb somatic Retinoblastoma Tumor DNA heterozygous isolated Iran:Tehran 1 - -
?/? g.78238C>T c.1654C>T
    + c.2116_2118dup		 substitution 17_ex - p.Arg552X - nonsense RB1_00121 somatic E2337 unilateral rb germline tumor DNA heterozygous isolated Germany:Essen 1 - -
?/? g.78238C>T c.1654C>T
    + c.1695+6T>C		 substitution 17_ex - p.Arg552X - nonsense RB1_00121 somatic E2782 unilateral rb germline tumor DNA heterozygous isolated Germany:Essen 1 - -
?/? g.78238C>T c.1654C>T
    + c.2520+2T>G		 substitution 17_ex - p.Arg552X - nonsense RB1_00121 somatic E4156 unilateral rb germline tumor DNA heterozygous isolated Germany:Essen 1 - -
?/? g.78238C>T c.1654C>T substitution 17_ex - p.Arg552X - nonsense RB1_00121 germline RB26 bilateral rb germline blood DNA - - Abidi et al. (2011) Mol Vis.;17:3541-7 1 published -
?/? g.78238C>T c.1654C>T substitution 17_ex - p.Arg552X - nonsense RB1_00121 somatic NCI-H1048 other cancer somatic nd DNA - - COSMIC - COSM887 1 published -
?/? g.78238C>T c.1654C>T substitution 17_ex - p.Arg552X - nonsense RB1_00121 somatic #154/2013 unilateral rb somatic tumour DNA heterozygous isolated Renieri - Siena 1 unpublished -
+/? g.78238C>T c.1654C>T substitution 17_ex - p.Arg552X - nonsense RB1_00121 unknown Tab_1_12 retinoblastoma unknown blood DNA heterozygous isolated Ming-yan He et al. 2014 Mol.vis.: 20:545-52 1 published -
?/+ g.78243T>A c.1659T>A substitution 17_ex - p.Cys553X - nonsense RB1_00122 - G311 bilateral rb germline blood DNA - familial Lohmann et al., 1996 1 published -
+/+ g.78243_7244del c.1659_1660del
    + c.2167dup		 Deletion 17_ex - p.(Cys553*) - nonsense RB1_02052 somatic E6413T unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann, Germany:Essen 1 unpublished -
?/? g.78240_78155del c.1659_1674del Deletion 17_ex - p.Cys553Trpfs*53 - unknown RB1_01561 somatic TCGA-24-1463 other cancer somatic nd DNA - - COSMIC - COSM69074 1 published -
?/+ g.78244G>T c.1660G>T substitution 17_ex - p.Glu554X - nonsense RB1_00123 - G192 bilateral rb germline inherited blood DNA - familial Lohmann et al., 1996 1 published -
?/+ g.78244G>T c.1660G>T substitution 17_ex - p.Glu554X - nonsense RB1_00123 - 16 bilateral rb germline blood DNA - familial Abouzeid et al. (2007) Mol Vis 13: 1740 1 published -
+/+ - c.1663_1670delinsTTC Insertion/Deletion 17_ex - - - frameshift RB1_01955 somatic E6246 unilateral rb somatic retinoblastoma DNA LOH isolated Lohmann, Germany:Essen 1 unpublished -
?/+ g.78250C>T c.1666C>T substitution 17_ex - p.Arg556X - nonsense RB1_00124 - Nip bilateral rb germline blood DNA not reported - Cowell et al., 1994 1 published -
?/+ g.78250C>T c.1666C>T substitution 17_ex - p.Arg556X - nonsense RB1_00124 - GOS561 unilateral rb somatic retinoblastoma DNA - - Hogg et al., 1993 1 published -
?/+ g.78250C>T c.1666C>T substitution 17_ex - p.Arg556X - nonsense RB1_00124 - TS81 rb germline blood DNA not reported familial Liu et al., 1995 1 published -
?/+ g.78250C>T c.1666C>T substitution 17_ex - p.Arg556X - nonsense RB1_00124 - E616T unilateral rb somatic retinoblastoma DNA - isolated Lohmann et al., 1997 1 published -
?/+ g.78250C>T c.1666C>T substitution 17_ex - p.Arg556X - nonsense RB1_00124 - E482T unilateral rb somatic retinoblastoma DNA - isolated Lohmann et al., 1997 1 published -
?/+ g.78250C>T c.1666C>T substitution 17_ex - p.Arg556X - nonsense RB1_00124 - G504 unilateral rb somatic retinoblastoma DNA - isolated Klutz et al ., 1999 1 published -
?/+ g.78250C>T c.1666C>T substitution 17_ex - p.Arg556X - nonsense RB1_00124 - Nidp bilateral rb germline pinealoblastoma DNA hemi/homozygous isolated Onadim et al., 1997 1 published -
?/+ g.78250C>T c.1666C>T substitution 17_ex - p.Arg556X - nonsense RB1_00124 - #262 bilateral rb germline blood DNA not reported familial Sippel et al., 1998 1 published -
?/+ g.78250C>T c.1666C>T substitution 17_ex - p.Arg556X - nonsense RB1_00124 - HC9 bilateral rb germline retinoblastoma DNA homo-/heterozygous isolated Braggio et al. (2004) J Clin Pathol 57(6): 585-90. 1 published -
?/+ g.78250C>T c.1666C>T substitution 17_ex - p.Arg556X - nonsense RB1_00124 - not provided bilateral rb germline blood DNA - familial Alonso et al. (2004) Genes Chromosomes Cancer 40(3): 271-5. 1 published -
?/+ g.78250C>T c.1666C>T substitution 17_ex - p.Arg556X - nonsense RB1_00124 - RB63 unilateral rb germline retinoblastoma DNA homozygous - Kiran et al. (2003) Hum Mutat 22(4): 339. 1 published -
?/+ g.78250C>T c.1666C>T substitution 17_ex - p.Arg556X - nonsense RB1_00124 - not provided - - nd DNA - - Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.78250C>T c.1666C>T substitution 17_ex - p.Arg556X - nonsense RB1_00124 - Fam305 bilateral rb germline nd DNA - familial Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.78250C>T c.1666C>T substitution 17_ex - p.Arg556X - nonsense RB1_00124 - Fam620 bilateral rb germline nd DNA - - Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.78250C>T c.1666C>T substitution 17_ex - p.Arg556X - nonsense RB1_00124 - Fam5 unilateral rb germline nd DNA - familial Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.78250C>T c.1666C>T substitution 17_ex - p.Arg556X - nonsense RB1_00124 - Rb31 rb germline blood DNA - - Tsai et al. (2004) Arch Ophthalmol 122:239 1 published -
?/+ g.78250C>T c.1666C>T substitution 17_ex - p.Arg556X - nonsense RB1_00124 - Rb227 rb germline blood DNA - - Tsai et al. (2004) Arch Ophthalmol 122:239 1 published -
?/+ g.78250C>T c.1666C>T substitution 17_ex - p.Arg556X - nonsense RB1_00124 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/+ g.78250C>T c.1666C>T substitution 17_ex - p.Arg556X - nonsense RB1_00124 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/+ g.78250C>T c.1666C>T substitution 17_ex - p.Arg556X - nonsense RB1_00124 - not provided unilateral rb somatic retinoblastoma DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/+ g.78250C>T c.1666C>T substitution 17_ex - p.Arg556X - nonsense RB1_00124 - not provided unilateral rb somatic retinoblastoma DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/+ g.78250C>T c.1666C>T substitution 17_ex - p.Arg556X - nonsense RB1_00124 - not provided bilateral rb germline blood DNA - isolated Babenko et al. (2002) Mol Biol (Mosk). 36(4):623-9. 1 published -
?/+ g.78250C>T c.1666C>T substitution 17_ex - p.Arg556X - nonsense RB1_00124 - E72 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.78250C>T c.1666C>T substitution 17_ex - p.Arg556X - nonsense RB1_00124 - not provided unilateral rb somatic nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.78250C>T c.1666C>T substitution 17_ex - p.Arg556X - nonsense RB1_00124 - not provided unilateral rb germline nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.78250C>T c.1666C>T substitution 17_ex - p.Arg556X - nonsense RB1_00124 - not provided bilateral rb somatic nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.78250C>T c.1666C>T substitution 17_ex - p.Arg556X - nonsense RB1_00124 - E3181 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.78250C>T c.1666C>T substitution 17_ex - p.Arg556X - nonsense RB1_00124 - not provided bilateral rb somatic nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.78250C>T c.1666C>T substitution 17_ex - p.Arg556X - nonsense RB1_00124 - not provided bilateral rb - nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.78250C>T c.1666C>T substitution 17_ex - p.Arg556X - nonsense RB1_00124 - E3942 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.78250C>T c.1666C>T substitution 17_ex - p.Arg556X - nonsense RB1_00124 - not provided - somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.78250C>T c.1666C>T substitution 17_ex - p.Arg556X - nonsense RB1_00124 - E4069 unilateral rb somatic retinoblastoma DNA heterozygous not reported Lohmann - Essen 1 unpublished -
?/+ g.78250C>T c.1666C>T substitution 17_ex - p.Arg556X - nonsense RB1_00124 - Fam793 unilateral rb somatic nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.78250C>T c.1666C>T substitution 17_ex - p.Arg556X - nonsense RB1_00124 - Fam107 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.78250C>T c.1666C>T substitution 17_ex - p.Arg556X - nonsense RB1_00124 - Fam245 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.78250C>T c.1666C>T substitution 17_ex - p.Arg556X - nonsense RB1_00124 - Fam645 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.78250C>T c.1666C>T substitution 17_ex - p.Arg556X - nonsense RB1_00124 - Fam792 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.78250C>T c.1666C>T substitution 17_ex - p.Arg556X - nonsense RB1_00124 - Fam884 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.78250C>T c.1666C>T substitution 17_ex - p.Arg556X - nonsense RB1_00124 - Fam641 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.78250C>T c.1666C>T substitution 17_ex - p.Arg556X - nonsense RB1_00124 - Fam759 bilateral rb germline nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.78250C>T c.1666C>T substitution 17_ex - p.Arg556X - nonsense RB1_00124 - Fam850 bilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.78250C>T c.1666C>T substitution 17_ex - p.Arg556X - nonsense RB1_00124 - Fam877 unilateral rb somatic nd DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.78250C>T c.1666C>T substitution 17_ex - p.Arg556X - nonsense RB1_00124 - CU001 bilateral rb germline blood DNA - familial Alonso et al. (2005) Hum Mutat 25: 99 1 published -
?/+ g.78250C>T c.1666C>T substitution 17_ex - p.Arg556X - nonsense RB1_00124 - 21 bilateral rb germline blood DNA - familial Sampieri et al. (2006) J Hum Genet 51: 209 1 published -
?/+ g.78250C>T c.1666C>T substitution 17_ex - p.Arg556X - nonsense RB1_00124 - T14 bilateral sporadic - retinoblastoma DNA - isolated Babenko et al. (2002) Mol Biol (Mosk) 36: 777 1 published -
?/+ g.78250C>T c.1666C>T substitution 17_ex - p.Arg556X - nonsense RB1_00124 - RB-1 bilateral rb germline blood DNA - isolated - 1 published -
?/? g.78250C>T c.1666C>T substitution 17_ex - p.Arg556X - nonsense RB1_00124 somatic Br04X other cancer somatic nd DNA - - COSMIC - COSM888 1 - -
?/? g.78250C>T c.1666C>T substitution 17_ex - p.Arg556X - nonsense RB1_00124 germline #11 bilateral rb germline blood DNA - isolated Seo et al., 2012 1 published -
?/? g.78250C>T c.1666C>T substitution 17_ex - p.Arg556* - nonsense RB1_00124 germline #704 bilateral rb germline blood DNA unknown isolated Renieri - Siena 1 unpublished -
?/+ g.78253del c.1669del deletion 17_ex - p.Ile557Serfs*54 - frameshift RB1_01227 unknown 17 bilateral rb germline blood DNA - isolated Abouzeid et al. (2007) Mol Vis 13: 1740 1 published -
?/? g.78162T>C c.1678T>C Substitution 17_ex - - - unknown RB1_01686 germline ge_uni_iso_tu42 unilateral rb germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
+/? - c.1683dup Duplication 17_ex - p.Ala562Cysfs*10 - frameshift RB1_01982 germline fam-no_20113177 retinoblastoma germline blood DNA unknown isolated Dommering et al. 2014, Germany:Essen 1 published -
?/? g.78268G>C c.1684G>C Substitution 17_ex - p.Ala562Pro - unknown RB1_01631 germline bilateral_329 bilateral rb germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 published -
2101 - 2200
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Legend: [ RB1 full legend ]
Sequence variations are described basically as recommended by the Ad-Hoc Committee for Mutation Nomenclature (AHCMN), with the recently suggested additions (den Dunnen JT and Antonarakis SE [2000], Hum.Mut. 15:7-12); for a summary see Nomenclature. Coding DNA Reference Sequence, with the first base of the Met-codon counted as position 1.
Path.: Variant pathogenicity, in the format Reported/Concluded; '+' indicating the variant is pathogenic, '+?' probably pathogenic, '-' no known pathogenicity, '-?' probably no pathogenicity, '?' effect unknown. g-position: Variation at DNA level according to GenBank accession number L11910 (NCBI Genbank) cDNA change: Variation at DNA-level. If present, "Full Details" will show you the the full-length entry. Type: Type of variant at DNA level. Exon: Exon numbering. RNA change: Variation at RNA-level, (?) unknown but probably identical to DNA. Protein: Variation at protein level. RBWiki: RBWiki expected consequence type: expected consequence type at protein level, e.g. frameshift, missense RB1 DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. originated_in: data on the cell of origin, either germline or somatic (mosaic mutations are of somatic origin) Patient ID: Internal reference to the patient. Phenotype: Disease phenotype, as reported in paper/by submitter, unless modified by the curator. Mut. origin: Origin of mutation Tissue: Tissue type the variant was detected in. Template: Variant detected in DNA, RNA and/or Protein. tumor-genotype: Genotype of the tumor cells family history: Occurrence of the tumor in the family Reference: Reference describing the variation, "Submitted:" indicating that the mutation was submitted directly to this database. # Reported: Number of times this case has been reported Published: Patient data is published in a paper

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