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