Appendix 1 of Kalsoom, Mol Vis 2015; 21:1085-1092.

Appendix 1. Detailed description of collected RB patients.

Mutation name is based on full length RB1 transcript (NM_000321.1) and encoded protein (NP_000312). Nucleotide numbering commenced with the A of the ATG translation initiation codon as +1. *U/B = Unilateral/Bilateral **H/NH = Hereditary/Non-hereditary ***rb1-lsdb = RB1 variation Database, ( ****ExAC = Exome Aggregation Consortium, To access the data, click or select the words “Appendix 1.”