Table 1 of Coussa, Mol Vis 2019; 25:869-889.
Gene | Protein variation | Zygosity |
---|---|---|
RHO | p.Asn15Ser [77] | Heterozygous |
p.Thr17Met [66,78] | Heterozygous | |
p.Pro23His [79] | Heterozygous | |
p.Thr4Lys [80] | Heterozygous | |
p.Thr58Arg [81] | Heterozygous | |
p.Thr58Met [3] | Heterozygous | |
p.Asn78Ile [82] | Heterozygous | |
p.Gly106Arg [83] | Heterozygous | |
p.Pro170His [84] | Heterozygous | |
p.Gly182Ser [66] | - | |
p.Asp190Asn [85] | Heterozygous | |
p.Pro267Arg [86] | - | |
p.Trp126Leu [87] | Heterozygous | |
p.Asn15Ser [88] | Heterozygous | |
p.Gly106Arg [89] | Heterozygous | |
CDH23 | p.Pro2844Thr [51] | Heterozygous |
USH1C | p.Arg103His [90] | Heterozygous |