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Three novel mutations respectively of LOX, COL5A1 and TIMP3 identified in KC patients.
| Gene | Nucleotide change | Amino acid change | Position | Gene region | Mutation effect | SIFT score |
|---|---|---|---|---|---|---|
| LOX | c.95 G > A | P32L | 121413586 | exonic | nonsynonymous SNV | 0.01 |
| COL5A1 | c.1372 C > T | S159F | 33255204 | exonic | nonsynonymous SNV | 0 |
| TIMP3 | c.476 C > T | P458S | 137623956 | exonic | nonsynonymous SNV | 0.01 |
