Table 3 of
Gee, Mol Vis 2015; 21:1093-1100. Table 3 of
Gee, Mol Vis 2015; 21:1093-1100.
Table 3. Coding region variants identified in individual with Fleck corneal dystrophy (proband 2)
| Region | Nucleotide Change | Zygosity | Type of Polymorphism | Amino Acid Change | SNP | MAF |
|---|---|---|---|---|---|---|
| Exon 16 | 2087G>A | Hemizygous | Substitution | Ser696Asn | rs10932258 | 0.0064 |
| Exon 16 | 2106C>T | Hemizygous | Substitution | Pro702Pro | rs10932259 | 0.062 |
| Exon 19 | 2795T>C | Homozygous | Substitution | Leu932Ser | rs2363468 | 0.0615 |
| Exon 19 | 2984A>T | Homozygous | Substitution | Gln995Lys | rs893254 | 0.0849 |
| Exon 19 | 2993C>G | Homozygous | Substitution | Thr998Ser | rs893253 | 0.0638 |
| Exon 19 | 3547C>A | Homozygous | Substitution | Glu1183Lys | rs36535804 rs1529979 | 0.062 |
| Exon 19 | 3564T>C | Homozygous | Substitution | Asn1188Asn | rs1529978 | 0.0041 |
| Exon 34 | 5334G>A | Homozygous | Substitution | Thr1778Thr | rs2304545 | 0.2392 |
| Exon 35 | 5397A>G | Homozygous | Substitution | Thr1788Thr | rs2118297 | 0.062 |
| Exon 36 | 5562A>G | Homozygous | Substitution | Glu1842Glu | rs994697 | 0.062 |