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Table 2 List of sequence variants of the VSX1 gene in Chinese sporadic keratoconus patients

From: Analysis of the VSX1 gene in sporadic keratoconus patients from China

Nucleotide change Amino acid change Change site Change type Keratoconus (n = 50) Controls (n = 50)
c.5427G > C p.Arg131Pro First exon Heterozygous missense variant 1 (2.0%) 0 (0.0%)
c.7672G > T p.Gly160Val Second exon Heterozygous missense variant 2 (4.0%) 0 (0.0%)
c.8326G > A Noncoding region Third intron Heterozygous SNP variant 3 (6.0%) 4 (8.0%)
c.8326G > A Noncoding region Third intron Homozygous SNP variant 2 (4.0%) 1 (2.0%)