From: Genetic mutations and molecular mechanisms of Fuchs endothelial corneal dystrophy
Gene | Nucleotide change | Amino acid change | References |
---|---|---|---|
TCF8 (ZEB1) | c.2522A > C | p.Q841P | [38] |
c.619A > G | p.S207G | [38] | |
c.192TÂ >Â C | p.D64D | ||
NA | p.T232T | [39] | |
c.2197G > A | p.E733K | [39] | |
c.2453C > T | p.A818V | [39] | |
c.2840 T > A | p.L947stop | [39] | |
NA | p.S234S | [39] | |
c.2519A > C | p.Q840P | ||
c.2087A > G | p.N696S | [37] | |
c.232A > G | p.N78T | [11] | |
c.1945C > G | p.P649A | [11] | |
c.2429A > C | p.Q810P | [11] | |
c.2714C > G | p.A905G | [11] | |
c.666 T > C | p.S201S | [19] | |
c.852 T > C | p.S263S | [19] | |
c.1721A > G | p.K553R | [19] | |
c.1738C > T | p.P559S | [19] | |
c.2037C > G | p.N658K | [19] | |
c.2124A > C | p.P687P | [19] | |
c.2623C > A | p.Q854K | [19] |