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LOVD - Variant listings for RB1

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?/+ g.41954G>T c.409G>T substitution 04_ex - p.Glu137X - nonsense RB1_00049 - G421 bilateral rb germline blood DNA - isolated Lohmann et al., 1996 1 published -
?/+ g.41954G>T c.409G>T substitution 04_ex - p.Glu137X - nonsense RB1_00049 - E779T unilateral rb somatic retinoblastoma DNA - isolated Klutz et al ., 1999 1 published -
?/+ g.41954G>T c.409G>T substitution 04_ex - p.Glu137X - nonsense RB1_00049 - Fam119 bilateral rb somatic retinoblastoma DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.41954G>T c.409G>T substitution 04_ex - p.Glu137X - nonsense RB1_00049 - not provided unilateral rb somatic retinoblastoma DNA - - Babenko et al. (2002) Mol Biol (Mosk). 36(4):623-9. 1 published -
?/+ g.41954G>T c.409G>T substitution 04_ex - p.Glu137X - nonsense RB1_00049 - not provided - germline nd DNA hemi/homozygous familial Lohmann - Essen 1 unpublished -
?/+ g.41954G>T c.409G>T substitution 04_ex - p.Glu137X - nonsense RB1_00049 - not provided unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/+ g.41954G>T c.409G>T substitution 04_ex - p.Glu137X - nonsense RB1_00049 - T20 unilateral rb - retinoblastoma DNA - isolated Babenko et al. (2002) Mol Biol (Mosk) 36: 777 1 published -
?/? g.41954G>T c.409G>T substitution 04_ex - p.Glu137X - nonsense RB1_00049 germline #3 bilateral rb germline blood DNA - isolated Seo et al., 2012 1 published -
?/? g.41956A>T c.411A>T substitution 04_ex - p.Glu137Asp Glu137Asp missense RB1_00050 - HIV (RB247) bilateral rb germline blood DNA not reported - Blanquet et al., 1993 1 published -
?/? g.41956A>T c.411A>T substitution 04_ex - p.Glu137Asp Glu137Asp missense RB1_00050 - E511T unilateral rb somatic retinoblastoma DNA - isolated Lohmann et al., 1997, Germany:Essen 1 published -
?/? g.41956A>T c.411A>T substitution 04_ex - p.Glu137Asp Glu137Asp missense RB1_00050 - 003-URB unilateral rb germline blood DNA - familial Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/? g.41956A>T c.411A>T substitution 04_ex - p.Glu137Asp Glu137Asp missense RB1_00050 - 4 bilateral rb - Buccal Swabs DNA - - - 1 unpublished White patient
?/? g.41956A>T c.411A>T substitution 04_ex - p.Glu137Asp Glu137Asp missense RB1_00050 - 8 unilateral rb - blood DNA - - - 1 unpublished European
?/? g.41956A>T c.411A>T substitution 04_ex - p.Glu137Asp Glu137Asp missense RB1_00050 unknown rs3092902 - unknown nd DNA - - dbSNP 1 published -
?/? g.41957dup c.412dup Duplication 04_ex - p.Ile138Asnfs*2 - frameshift RB1_01526 unknown rs66936947 - unknown nd DNA - - dbSNP 1 - -
+/+? g.41958T>G c.413T>G Substitution 04_ex - p.Ile138Ser Ile38Ser missense RB1_01397 - Case No. 19 other cancer somatic tumor RNA hemi/homozygous - Miyomoto et al. (1995) Br J Cancer. 1995 Apr;71(4):831-5. 1 published bladder cancer
?/+ g.41965del c.420del deletion 04_ex - p.Ser141Valfs*12 - frameshift RB1_00379 germline E1470 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/? g.41966del c.421del deletion 04_ex - - - - RB1_01213 - not provided rb - nd DNA - - Fernandez et al. (2007) Mol Diagn Ther 11: 55 1 published -
?/? g.41967_41968del c.422_423del Substitution 04_ex - - - unknown RB1_01787 germline bilateral_47 bilateral rb germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/+ g.41969_41976del c.424_431del deletion 04_ex - p.(Thr142*) - frameshift RB1_00695 unknown not provided unilateral rb somatic retinoblastoma DNA - - Babenko et al. (2002) Mol Biol (Mosk). 36(4):623-9. 1 published -
?/+ g.41974_41975del c.429_430del deletion 04_ex - p.Lys143Asnfs*2 - frameshift RB1_00341 unknown E1349 bilateral rb - nd DNA heterozygous isolated Lohmann - Essen 1 unpublished -
?/? g.41983del c.438del deletion 04_ex - p.Asn146Lysfs*7 - unknown RB1_01214 unknown 3 bilateral rb germline blood DNA - isolated Abouzeid et al. (2007) Mol Vis 13: 1740 1 published -
?/+ g.41987_41988del c.442_443del deletion 04_ex - Met148Valfs*8 - frameshift RB1_00773 unknown not provided bilateral rb germline blood DNA - isolated Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/+ g.41989insAT c.444_445insAT insertion 04_ex - p.Ser149Ilefs*5 - frameshift RB1_01310 unknown 157/97 bilateral rb germline blood DNA - isolated Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409. 1 published -
?/? g.41993A>T c.448A>T Substitution 04_ex Stop gained p.Arg150X - unknown RB1_01498 somatic NCI-H719 other cancer somatic tumor DNA - - COSMIC - COSM23826 1 published -
?/? g.42001del c.456del deletion 04_ex - - - - RB1_01215 - not provided rb - nd DNA - - Fernandez et al. (2007) Mol Diagn Ther 11: 55 1 published -
?/+ g.42005_42006dup c.460_461dup insertion 04_ex - p.Tyr155Serfs*21 - frameshift RB1_00495 unknown not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/+ g.42012_42014dup c.465_467dup insertion 04_ex - p.Asp156dup - frameshift RB1_00568 - 005-URB unilateral rb germline blood DNA - - Nichols et al. (2005) Hum Mutat 25(6): 566-74. 1 published -
?/+ g.42014del c.469del deletion 04_ex - p.Val157Tyrfs*18 - frameshift RB1_00458 somatic E3382 unilateral rb somatic nd DNA hemi/homozygous isolated Lohmann - Essen 1 unpublished -
?/? g.42018delT c.473delT Deletion 04_ex - - - frameshift RB1_01751 somatic ng_un_is_tu_429 unilateral rb somatic tumor DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.42018T>A c.473T>A Substitution 04_ex - p.Leu158X - unknown RB1_01846 somatic NCI-H1173 other cancer somatic tumor DNA - - COSMIC - COSM13413 1 published -
+/+? g.42018T>C c.473T>C Substitution 04_ex - p.Leu158Ser Leu158Ser missense RB1_01396 - Case No. 13 other cancer somatic tumor RNA heterozygous unknown Miyomoto et al. (1995) Br J Cancer. 1995 Apr;71(4):831-5. 1 published bladder cancer
?/+ g.42019delinsTT c.474delinsTT Insertion/Deletion 04_ex - p.(Leu158Phefs*13) - frameshift RB1_01960 germline E5334 bilateral rb germline blood DNA unknown isolated Lohmann, Germany:Essen 1 unpublished -
?/+ g.42020_42023dup c.475_478dup insertion 04_ex - p.Ala160Valfs*12 - frameshift RB1_00051 unknown E322 unilateral rb germline blood DNA - isolated Lohmann et al., 1994 1 published -
?/+ g.42020del c.477del deletion 04_ex - p.Phe159Leufs*16 - frameshift RB1_00865 unknown Fam354 bilateral rb germline nd DNA - isolated Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/+ g.42029_42030delinsC c.484_485delinsC complex 04_ex - p.Phe162Profs*13 - frameshift RB1_00052 unknown GOS537 bilateral rb somatic retinoblastoma DNA - - Hogg et al., 1993 1 published -
?/? g.42029_42030delTTins c.484_485delTTins Other/Complex 04_ex - p.Phe162ProfsX13 - frameshift RB1_01527 somatic S84207 retinoblastoma somatic nd DNA - - COSMIC - COSM1045, Hogg et al, 1993 1 published -
?/? g.42030dupT c.485dupT Duplication 04_ex - - - unknown RB1_01700 somatic ng_un_is_tu_168 unilateral rb somatic tumor DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/+ g.42035ins27 c.490_491ins27 insertion 04_ex - 165X - frameshift RB1_00694 - not provided unilateral rb somatic retinoblastoma DNA - - Babenko et al. (2002) Mol Biol (Mosk). 36(4):623-9. 1 published -
?/+ g.42035ins27 c.490_491ins27 insertion 04_ex - 165X - frameshift RB1_00694 - T6 unilateral rb - retinoblastoma DNA heterozygous isolated Babenko et al. (2002) Mol Biol (Mosk) 36: 777 1 published -
?/? g.42038delT c.493del Deletion 04_ex - p.Leu165Trpfs*10 - frameshift RB1_01528 unknown rs66624868 - - nd DNA - - dbSNP 1 - -
?/? g.42041G>T c.496G>T Substitution 04_ex - p.Glu166X - nonsense RB1_01847 somatic NCI-H2227 other cancer somatic tumor DNA - - COSMIC - COSM13403 1 published -
?/? g.42046G>A c.500+1G>A Substitution 04_in splice - - splice RB1_01597 somatic bilateral_44 bilateral rb mosaicism blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.42047del c.500+2del deletion 04_in altered splicing - - splice RB1_00189 - GOS197 bilateral rb - retinoblastoma DNA - - Hogg et al., 1993 1 published COSM1027
?/? g.42068G>T c.500+23G>T substitution 04_in - variant - variant RB1_01013 - not provided no cancer - blood DNA - - Mateu et al., 1997 1 published -
?/? g.42068G>T c.500+23G>T substitution 04_in - variant - variant RB1_01013 - not provided no cancer germline blood DNA - - Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409. 1 published -
?/? g.42091A>G c.500+46A>G substitution 04_in - variant - variant RB1_01014 - not provided no cancer germline blood DNA - - dbSNP 1 published reported in: Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409
?/? g.42127 c.500+82A>G Substitution 04_in - - - unknown RB1_01829 unknown 1KG_13_48919417 - - nd DNA - - http://www.1000genomes.org/ 1 published -
?/? g.42216A>G c.500+171A>G substitution 04_in - variant - variant RB1_01099 - not provided no cancer - nd DNA - - dbSNP 1 published -
?/? g.42244A>T c.500+199A>T substitution 04_in - variant - variant RB1_01100 - not provided no cancer - nd DNA - - dbSNP 1 published -
?/? g.44568delA c.501-100delA Deletion 04_in - - - unknown RB1_01830 somatic rs67025036 no cancer unknown nd DNA - - dbSNP 1 published -
?/? g.44591G>A c.501-77G>A substitution 04_in - variant - variant RB1_01015 - not provided no cancer germline blood DNA - - Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409. 1 published -
?/? g.44591G>A c.501-77G>A substitution 04_in - variant - variant RB1_01015 - not provided - unknown nd DNA unknown unknown dbSNP 1 - -
?/? g.44630G>A c.501-38G>A substitution 04_in - variant - variant RB1_01016 - not provided no cancer germline blood DNA - - Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409. 1 published -
?/? g.44630G>A c.501-38G>A substitution 04_in - variant - variant RB1_01016 - not provided - unknown nd DNA unknown unknown dbSNP 1 - -
?/? g.44646G>T c.501-22G>T substitution 04_in - variant - variant RB1_01017 - not provided no cancer - nd DNA - - Klutz et al., 1999 1 published -
?/? g.44653T>G c.501-15T>G substitution 04_in altered splicing - - splice RB1_01255 - not provided rb - blood DNA - - Alonso et al. (2006) Med Clin (Barc) 126: 401 1 published -
?/? g.44653T>G c.501-15T>G substitution 04_in altered splicing - - splice RB1_01255 - SR08 unilateral rb germline retinoblastoma DNA - familial lp Kontic et al. (2006) J Hum Genet 51: 909 1 published -
?/? g.44667G>A c.501-1G>A substitution 04_in altered splicing - - splice RB1_00190 - RB313 bilateral rb germline blood DNA not reported - Blanquet et al., 1995 1 published -
?/? g.44667G>A c.501-1G>A substitution 04_in altered splicing - - splice RB1_00190 - not provided rb germline blood DNA - - Houdayer et al. (2008) Hum Mutat 29: 975 1 published -
?/? g.44667G>C c.501-1G>C Substitution 04_in splice - - splice RB1_01601 germline bilateral_62 bilateral rb germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.44667G>T c.501-1G>T substitution 04_in altered splicing - - splice RB1_00450 somatic E3270 unilateral rb somatic retinoblastoma DNA heterozygous isolated Lohmann - Essen 1 unpublished -
+/? promoter methylation Other/Complex 5-UTR - - - promoter RB1_02119 somatic #3645/16 unilateral rb mosaicism blood DNA - isolated Italy:Siena 1 unpublished -
?/? g.45798G>A c.501-1G>A substitution 05_in altered splicing - - splice RB1_00193 - DUM (RB165) bilateral rb germline blood DNA not reported - Blanquet et al., 1993 1 published -
?/? g.45798G>A c.501-1G>A substitution 05_in altered splicing - - splice RB1_00193 - Fam577 unilateral rb germline nd DNA - familial Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.45798G>A c.501-1G>A substitution 05_in altered splicing - - splice RB1_00193 - Fam632 bilateral rb germline nd DNA - not reported Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 unpublished -
?/? g.45798G>A c.501-1G>A substitution 05_in altered splicing - - splice RB1_00193 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/? g.45798G>A c.501-1G>A substitution 05_in altered splicing - - splice RB1_00193 - Fam796 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/? g.44669A>C c.502A>C substitution 05_ex - p.Thr168Pro Thr168Pro missense RB1_01351 - not provided unilateral rb germline retinoblastoma DNA - familial lp - 1 unpublished -
?/? g.44686T>A c.519T>A Substitution 05_ex - p.Tyr173X - unknown RB1_01675 somatic ge_uni_iso_tu_4 unilateral rb somatic tumor DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 - 2nd mut found in tumor
?/+ g.44693C>T c.526C>T substitution 05_ex - p.Gln176X - nonsense RB1_00439 - not provided bilateral rb germline blood DNA - - Houdayer et al. (2004) Hum Mutat 23(2): 193-202. 1 published -
?/+ g.44693C>T c.526C>T substitution 05_ex - p.Gln176X - nonsense RB1_00439 - not provided bilateral rb somatic nd DNA - isolated Lohmann - Essen 1 unpublished -
?/+ g.44693C>T c.526C>T substitution 05_ex - p.Gln176X - nonsense RB1_00439 - Fam713 unilateral rb somatic retinoblastoma DNA - isolated not reported, BL Gallie - Toronto 1 unpublished -
?/+ g.44693C>T c.526C>T substitution 05_ex - p.Gln176X - nonsense RB1_00439 - 20 bilateral rb - retinoblastoma DNA - - Van Orsouw et al. (1996) Hum Mol Genet 5: 755 1 published -
?/+ g.44695_44699dup c.528_532dup insertion 05_ex - p.Ser178Asnfs*10 - frameshift RB1_00053 unknown G279 bilateral rb germline inherited blood DNA - familial Lohmann et al., 1994 1 published -
?/? g.44699_44702dup c.532_535dup Insertion 5_ex - p.(Ser179Lysfs*7) - frameshift RB1_02033 germline P_20140723_85 bilateral rb germline blood DNA unknown isolated Houdayer - Paris 1 unpublished -
?/? g.44699_44706del c.532_539del deletion 05_ex - p.Ser178Aspfs*4 - unknown RB1_01216 unknown 4 bilateral rb germline blood DNA - isolated Abouzeid et al. (2007) Mol Vis 13: 1740 1 published -
?/+ g.44700del c.533del deletion 05_ex - p.Ser178Thrfs*8 - frameshift RB1_00254 germline E551 bilateral rb germline nd DNA - familial Lohmann - Essen 1 unpublished -
+/+? - c.539C>G Substitution 5 nd p.Ser180X/exon 5 skip - splice RB1_01412 - 110-3 unilateral rb germline blood DNA unknown familial Israel:Jerusalem 1 unpublished 2 children affected with unilateral retinoblastoma while the father who has the mutation does not have signs of RB
?/? g.44707G>A c.539+1G>A substitution 05_in altered splicing - - splice RB1_00598 - RB-327 unilateral rb somatic blood DNA - familial lp Sanchez et al. (2000) J Med Genet 37(8): 615-20. 1 published -
?/? g.44707G>C c.539+1G>C Substitution 05_in splice - - splice RB1_01676 germline ge_uni_iso_tu_8 unilateral rb germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.45700T>A c.540-99T>A Substitution 05_in - - - unknown RB1_01831 somatic 1KG_13_48922993 no cancer somatic nd DNA - - http://www.1000genomes.org/ 1 published -
?/? g.45702_45703insT c.540-97_540-96insT Insertion 05_in - - - unknown RB1_01832 somatic rs68072807 no cancer - nd DNA - - dbSNP 1 published -
?/? g.45718C>T c.540-81C>T substitution 05_in - variant - variant RB1_01101 - not provided no cancer - nd DNA - - dbSNP 1 published -
?/? g.45759_45760insT c.540-40_540-39insT Insertion 05_in - - - unknown RB1_01833 unknown rs34257378 no cancer - nd DNA - - dbSNP 1 published -
?/? g.45776dup c.540-23dup insertion 05_in - variant - variant RB1_01018 - not provided no cancer germline blood DNA - - Sivakumaran et al. (2005) Hum Mutat. 25(4):396-409. 1 published -
?/? g.45776dup c.540-23dup insertion 05_in - variant - variant RB1_01018 - RB-70 bilateral rb germline blood DNA - - Parsam et al. (2009) J Genet. 2009 Dec;88(4):517-27. 1 published -
?/? g.45787T>G c.540-12T>G Substitution 05_in splice - - splice RB1_01608 germline bilateral_82 bilateral rb germline blood DNA - isolated not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.45797A>G c.540-2A>G substitution 05_in altered splicing - - splice RB1_00393 - Fam574 bilateral rb germline nd DNA - familial Richter et al. (2003) Am J Hum Genet 72(2): 253-69. 1 published -
?/? g.45797A>G c.540-2A>G substitution 05_in altered splicing - - splice RB1_00393 - not provided - germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/? g.45798G>A c.540-1G>A Substitution 05_in splice - - splice RB1_01598 germline bilateral_54 bilateral rb germline blood DNA - unknown not reported - Diana Rushlow, Gallie:Toronto 1 unpublished -
?/? g.45776-45866del c.540-607del Other/Complex 06_ex - - - unknown RB1_01468 unknown RB-14 bilateral rb unknown blood DNA unknown isolated Parsam et al. (2011) J Biosci. 2011 Jun;36(2):281-7. 1 published Results in skipping of exon 6 (out-of-frame)
?/+ g.45801del c.542del deletion 06_ex - p.Ile181Asnfs*5 - frameshift RB1_01139 germline E4212 bilateral rb germline nd DNA - isolated Lohmann - Essen 1 unpublished -
?/? g.45800_45801insT c.542dup Insertion 06_ex Splice site p.Ser182Ilefs*3 - frameshift RB1_01529 somatic NCI-H596 other cancer somatic nd DNA - - COSMIC -COSM19454 1 - -
?/? g.45801T>C c.542T>C substitution 06_ex - p.Ile181Thr Ile181Thr missense-splice RB1_00723 - not provided unilateral rb somatic retinoblastoma DNA - - Babenko et al. (2002) Mol Biol (Mosk). 36(4):623-9. 1 published -
?/+ g.45812dup c.553dup insertion 06_ex - p.Ile185Asnfs*18 - frameshift RB1_00054 unknown CAT (RB75) bilateral rb germline blood DNA not reported - Blanquet et al., 1993 1 published -
?/? g.45813T>C c.554T>C substitution 06_ex - p.Ile185Thr [Ile185Thr] missense RB1_00055 - RB302 bilateral rb germline blood DNA not reported - Blanquet et al., 1995 1 published -
+/? g.45818T>A c.559T>A Substitution 06_ex - p.Ser187Thr [Ser187Thr] missense RB1_01404 - Case 7 other cancer unknown tumor RNA unknown unknown Kubota et al. (1995) Prostate. 1995 Dec;27(6):314-20. 1 published prostate cancer
?/? g.45823_45830del c.564_571del Deletion 6_ex - p.(Leu189Lysfs*11) - frameshift RB1_02034 germline P_20140723_96 bilateral rb germline blood DNA unknown isolated Houdayer - Paris 1 unpublished -
?/? g.45830C>T c.571C>T substitution 06_ex - p.Leu191Leu Leu191Leu unknown RB1_01353 - not provided bilateral rb germline blood DNA - familial lp - 1 unpublished -
401 - 500
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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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