Table 2 of Kiet, Mol Vis 2019; 25:215-221.


Table 2. Germline mutations and parental carrier status of RB patients.

Patient ID Patient Father Mother
RB-Y4 c.1399C>T WT WT
(Bilateral)      
RB-Y5 c.1363C>T ND ND
RB-Y7 c.1150C>T WT WT
(Bilateral)      
RB-Y13 c.2559delT ND ND
RB-Y14 IVS12+1G>A WT WT
RB-Y15 IVS12+1G>A ND ND
(Bilateral)      
RB-Y16 IVS24+1G>T WT WT
(Bilateral)      
RB-Y19 c.763C>T ND ND
RB-Y20 c.1940–1941delTT ND ND
RB-Y23 IVS13+1G>A WT WT
(Bilateral)      
RB-Y26 c.601G>C WT WT
RB-Y30 c.1666C>T ND ND
RB-Y32 IVS6+1delG WT WT
(Bilateral)      
RB-Y36 c.1841delA WT WT
(Bilateral)      
RB-Y50 IVS12+1G>A ND ND
RB-Y53 IVS6+1G>T ND ND
RB-Y54 IVS15+1delG WT WT
(Bilateral)      
RB-Y55 IVS13–2A>G IVS13–2A>G WT
(Bilateral)   (hetero-)