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. Author manuscript; available in PMC: 2010 Jul 1.
Published in final edited form as: Retina. 2009;29(7):1002–1012. doi: 10.1097/IAE.0b013e3181a0be05

Table 1.

Description of 25 sporadic unilateral RB tumors

ID Sex Age at enucleation LOH of Chromosome 13 Coding Sequence Mutation at RB1 locus Change (amino acid)/Splicing Number of Aberrations
014 female 2.0 No g. 2162C>T, exon 1 p.Q35X 7
020 female 2.1 No ND* 1
042 female 0.5 No g. 78238C > T, exon 17 p.R552X 15
044 male 1.1 Yes ND 25
142 female 2.4 Yes g. 61797G>A, exon 9 p.G310E 10
223 male 5.5 Yes ND 3
233 female 3.2 Yes DEL EXON 15,16 and 20 25
443 male 2.6 Yes ND 25
490 female 0.2 Yes ND 1
503 female 1.9 No g. 76898C>T, exon 15, g. 156833G> A, exon 20 p.R467X, p.W681X 2
501 female 2.4 Yes g. 76460C> T, exon 14 p.R455X 2
510 male 2.5 Yes ND 1
520 female 0.9 Yes ND 5
530 female 0.9 Yes ND 3
610 male 3.2 Yes ND 25
620 male 1.0 No g. 335InsTA, exon 2; g. 2364InsTTGA, exon 22 p.76X, p.750X 1
630 female 4.5 Yes g. 16184T>A, at −13 position of intron 21 Novel splice acceptor 25
710 male 7.4 Yes g. 150037C>T, exon 18 p.R579X 16
791 female 1.7 Yes g. 73750A>G, at −3 position of intron 12. Novel splice acceptor 4
840 female 0.7 Yes g. 65386C>T, exon 11 p.R358X, 25
860 female 2.5 Yes g. 150117 G>A, at +1 position of intron 18 Splice donor 1
902 female 2.5 Yes g. 160740 G>A, exon 21 p.C706Y 25
912 female 0.3 Yes ND 0
913 male 0.4 No ND 0
920 male 0.9 Yes g. 153198 A> G, at −12 position of intron 18 Novel splice acceptor 5
*

ND – Not detected