Table 2 of Mateo, Mol Vis 2012; 18:1301-1311.


Table 2. Sequence variants identified.

Gene Exon Variant Amino acid residue dbSNP reference number
ZDHHC21 exon 6 c.318 T>C C106C rs17215796
FREM1 exon 3 c.-135C>G N/A  
  exon 5 c.456 A>G Q152Q rs10961757
  exon 21 c.3634 G>T A1212S rs35870000
  exon 26 c.4785 C>T A1595A rs10733289
  exon 26 c.4791 T>C D1597D rs1032474
  exon 27 c.5004 C>A I1668I rs17219005
  exon 31 c.5556 A>G G1853G Not described
  exon 34 c.5859 T>C V1953V rs4741426