Note: The original file submitted is modified to provide links to the results.
Table 1: Summary of the RPGR mutations identified in this report.
Patient ID Exon / Intron Nucleotide sequence change* Effect of Mutation
A316 Exon 2 160delA Frameshift
A1014 Exon 7 789A>T K244X
A1021 Intron 8 IVS8+1G>C Splicing error, exon 8 skipped
A1066 Exon 10 1147insT Frameshift
A1192 Exon 11 1366G>A G436D