Table 1 of
Nguyen, Mol Vis 2018; 24:231-238. Table 1 of
Nguyen, Mol Vis 2018; 24:231-238.
Table 1. RB1 gene mutations identified in retinoblastoma patients by Sanger sequencing and MLPA methods.
| Patient ID | gDNA position | Exon/or intron | cDNA position | Consequence | Present in mother/ father | Reference |
|---|---|---|---|---|---|---|
| RB5 | Whole gene deletion | NY/NY | NA | |||
| RB6 | g.76434insTA | Exon 14 | c.1337insTA | Frameshift | No/NA | Novel |
| RB7 | g.77028–77029delTA | Exon 16 | c. 1449–1450delTA | Frameshift | No/NA | Novel |
| RB8 | g.39445G>T | Intron 2 | c.265–1G>T | Splicing | No/NA | LOVD |
| RB12 | g.73849delT | Exon 13 | c.1312delT | Frameshift | No/NA | Novel |
| RB13 | g.160835G>A | Intron 21 | c.2211+1G>A | Splicing | No/NA | LOVD |
| RB15* | g.153353G>A | Exon 19 | c.1960G>A | Splicing | No/Yes | LOVD |
| RB16 | g.73843C>T | Exon 13 | c.1306C>T | p.Gln436X | No/NA | LOVD |
| RB17 | g.162317T>G | Exon 23 | c.2439T>G | p.Tyr813X | No/Yes | LOVD |
| RB19 | g.39478G>A | Exon 3 | c.297G>A | p.Trp99X | No/NA | LOVD |
| RB20 | Whole gene deletion | NY/Yes | NA | |||
| RB21 | Whole gene deletion | NY/Yes | NA | |||
| RB23 | g.156713C>T | Exon 20 | c.1981C>T | p.Arg661Trp | No/NA | LOVD |
| RB24* | g.153353G>A | Exon 19 | c.1960G>A | Splicing | No/Yes | LOVD |
| RB25 | Whole gene deletion | NA/NY | NA | |||
| RB28 | g.70330G>A | Intron 12 | c.1215+1G>A | Splicing | No/NA | LOVD |
| RB35 | g.77073T>G | Exon 16 | c.1494T>G | p.Tyr498X | Yes, mosaicism/No | LOVD |
| RB38 | Exon 4–27 deletion | NA/NY | NA | |||
| RB39 | g.162237C>T | Exon 23 | c.2359C>T | p.Arg787X | No/No | LOVD |
| RB40 | Whole gene deletion | NY/NY | NA | |||
| RB43 | g.73867C>T | Exon 13 | c.1330C>T | p.Gln444X | No/No | LOVD |
| RB44 | g.156761G>T | Exon 20 | c.2029G>T | p.Glu667X | No/NA | LOVD |
| RB45 | g.153332–153333delTC; | Exon 19 | c.1939–1940delTC | Frameshift | No/No | LOVD |
| RB48 | g.64341–64344delTCTT | Exon 10 | c.951–954delTCTT | Frameshift | NA/NA | LOVD |
| RB49 | g.39551–39552delTA | Exon 3 | c.371–372delTA | Frameshift | No/No | LOVD |