Skip to main content
. Author manuscript; available in PMC: 2022 May 4.
Published in final edited form as: Ophthalmic Genet. 2020 Feb 13;41(1):26–30. doi: 10.1080/13816810.2020.1723116

Table 1.

Summary of affected individual genotypes.

ID KIZ variant Protein consequence Frequency of variant in control (gnomAD) database Prediction
A-II:2 c.226C>T p.Arg76Ter 0.0004433 Pathogenic
B-II:1 c.119_122delAACT p.Lys40llefsTer14 0.00003832 Pathogenic
C-II:1 c.226C>T p.Arg76Ter 0.0004433 Pathogenic
D-II:5 c.226C>T p.Arg76Ter 0.0004433 Pathogenic