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, (http://rb1-lovd.d-lohmann.de/home.php?select_db=RB1) ****ExAC = Exome Aggregation Consortium, http://exac.broadinstitute.org/variant/13-48939088-C-T. To access the data, click or select the words “Appendix 1.”