| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Congenital Hereditary Endothelial Dystrophy (CHED2) | Corneal endothelial dystrophy | Autosomal Recessive | 20p13 | Substitution | SLC4A11 | c.2024A>C | p.(Glu675Ala) | Missense | Yousaf et al., 2023/2023 |
| Congenital Hereditary Endothelial Dystrophy (CHED2) | Corneal endothelial dystrophy | Autosomal Recessive | 20p13 | Substitution | SLC4A11 | c.2470G>A | p.Val824Met | Missense | Iqbal et al., 2022/2022 |
| Congenital Hereditary Endothelial Dystrophy (CHED2) | Corneal endothelial dystrophy | Autosomal Recessive | 20p13 | Delation | SLC4A11 | c.473_480del | p.Arg158fs | Frameshift | Iqbal et al., 2022/2022 |
| Congenital Hereditary Endothelial Dystrophy (CHED2) | Corneal endothelial dystrophy | Autosomal Recessive | 20p13 | SLC4A11 | p.Arg128Gly | Missense | Firasat et al., 2021/2021 | ||
| Congenital Hereditary Endothelial Dystrophy (CHED2) | Corneal endothelial dystrophy | Autosomal Recessive | 20p13 | Substitution | SLC4A11 | c.2241-2A>T | ...... | Splice site | Firasat et al., 2021/2022 |
| Congenital Hereditary Endothelial Dystrophy (CHED2) | Corneal endothelial dystrophy | Autosomal Recessive | 20p13 | Substitution | SLC4A11 | c.1898-2A>C | ..... | Splice site | Firasat et al., 2021/2021 |
| Congenital Hereditary Endothelial Dystrophy (CHED2) | Corneal endothelial dystrophy | Autosomal Recessive | 20p13 | SLC4A11 | p.Arg869Cys | Missense | Firasat et al., 2021/2021 | ||
| Congenital Hereditary Endothelial Dystrophy (CHED2) | Corneal endothelial dystrophy | Autosomal Recessive | 20p13 | SLC4A11 | p.Val824Met | Missense | Firasat et al., 2021/2021 |
