Table 1.
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