Research Article
A Novel Splice-Site Variation in COL5A1 Causes Keratoconus in an Indian Family
Table 2
Preliminary KC candidate variants.
| | Gene | Phenotype | Variation |
| | COL5A1 | Heterozygote, splice site | IVS50-4C > G | | VSX1 | Heterozygote, synonymous | rs10943299 | | TGFBI | Heterozygote, synonymous | rs1054124 | | TGFBI | Heterozygote, synonymous | rs1133170 | | TGFBI | Heterozygote, synonymous | rs4669 | | ZNF469 | Heterozygote, synonymous | rs3812953 | | ZNF469 | Heterozygote, synonymous | rs4782301 | | ZNF469 | Heterozygote, synonymous | rs12918876 |
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