From: Genetic mutations and molecular mechanisms of Fuchs endothelial corneal dystrophy
Gene | Nucleotide change | Amino acid change | References |
---|---|---|---|
LOXHD1 | c.5272A > T | p.T1758S | [13] |
c.1904 T > C | p.L635P | [13] | |
NA | p.D53E | [13] | |
NA | p.S81N | [13] | |
c.469C > T | p.R157C | [13] | |
NA | p.R524C | [13] | |
c.1639C > T | p.R547C | [13] | |
c.1759C > T | p.R587W | [13] | |
c.1945G > A | p.D649N | [13] | |
c.2251C > T | p.R751W | [13] | |
NA | p.R787C | [13] | |
NA | p.L1292F | [13] | |
NA | p.E1742K | [13] | |
c.5395C > T | p.R1800W | [13] | |
NA | p.E1985Q | [13] | |
NA | p.H2038N | [13] | |
c.6413G > A | p.R2138Q | [38] | |
c.3463A > G | p.R1155G | [38] | |
c.6107 T > C | p.A2036V | [38] |