Table 2 of Gao, Mol Vis 2016; 22:234-242.

Table 2. Six candidate mutations detected from the whole exome sequencing.

Gene Gene Bank ID Exon Nucleotide
change Amino acid
NRL      NM_006177 2 c.146C>T p.P49L
TRIM32      NM_012210 2 c.284T>C p.V95A
CERKL      NM_ 201548 2 c.346A>G p.T116A
STL2 NM_001854 33 c.2645G>A p.R882H
TREX1      NM_016381 1 c.161C>A p.P54Q
BEST1      NM_001139443 9 c.1687C>T p.R563C