Table 2. Coding region variants identified in individual with Fleck corneal dystrophy (proband 1).
| Region | Nucleotide Change | Zygosity | Type of Polymorphism | Amino Acid Change | SNP | MAF |
|---|---|---|---|---|---|---|
| Exon 16 |
2087G>A |
Homozygous |
Substitution |
Ser696Asn |
rs10932258 |
0.0064 |
| Exon 16 |
2106C>T |
Homozygous |
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 |
3097T>G |
Heterozygous |
Substitution |
Ser1033Ala |
rs999890 |
0.092 |
| Exon 19 |
3114A>G |
Heterozygous |
Substitution |
Arg1038Arg |
rs999891 |
0.092 |
| Exon 19 |
3151dupA |
Heterozygous |
Duplication |
Asp1052Argfs*18 |
None |
|
| 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 |
Heterozygous |
Substitution |
Thr1778Thr |
rs2304545 |
0.2392 |
| Exon 35 |
5397A>G |
Homozygous |
Substitution |
Thr1788Thr |
rs2118297 |
0.062 |
| Exon 36 |
5511T>C |
Heterozygous |
Substitution |
Ile1837Ile |
rs13020468 |
0.022 |
| Exon 36 | 5562A>G | Heterozygous | Substitution | Glu1842Glu | rs994697 | 0.062 |