Appendix 4 of Singh, Mol Vis 2016; 22:1036-1047.
To access the data, click or select the words “Appendix 4.” By split read alignment of the sequence reads, we could detect the precise breakpoints in the RB1 gene in 2 out of 6 deletions. In the sample RB6, for the identified deletion (c.719–2574_1127+678delinsC), the break points were: 2574 bp upstream (chr13:4893377) of exon 8 (5′ break-point) and the 3′ break-point was mapped to 678 bp downstream (chr13:48943418) of exon11 of the RB1 gene (A). The identified deletion in the sample RB6, was confirmed by Sanger sequencing (B). In the sample RB31, for the identified deletion [c.2643_(*1915+3849)del], the break points were: 21 bases (chr13:49050959) at 3′ end of exon 25 and complete deletion of exon 26 and exon 27 and the 3′ break-point was mapped to 3849 bp (chr13:49059971) downstream of 3′UTR of the RB1 gene (C). The identified deletion in the sample RB31, was confirmed by Sanger sequencing (D).