| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Congenital Recessive Dystrophic Epidermolysis Bullosa (RDEB) | Epidermolysis bullosa (EB) with blisters and miliary rashes of the skin | Autosomal Recessive | 3p21.31 | Substitution | COL7A1 | c.7034G>A | p. Gly2345Asp | Missense | Fozia et al., 2022/2022 |
| Congenital Recessive Dystrophic Epidermolysis Bullosa (RDEB) | Epidermolysis bullosa (EB) with blisters and miliary rashes of the skin | Autosomal Recessive | 3p21.31 | Delation | COL7A1 | c.385del | His129MetfsTer18 | Frameshift | Fozia et al., 2022/2022 |
| Congenital Recessive Dystrophic Epidermolysis Bullosa (RDEB) | Epidermolysis bullosa (EB) with blisters and miliary rashes of the skin | Autosomal Recessive | 3p21.31 | Substitution | COL7A1 | c.1573 C>T | p. Arg525Ter | Nonsense | Fozia et al., 2022/2022 |
| Autosomal recessive dystrophic epidermolysis bullosa (RDEB) | Autosomal recessive dystrophic epidermolysis bullosa | Autosomal Recessive | 3p21.31 | Substitution | COL7A1 | c.409C>T | p.Arg137* | Nonsense | Basit et al.,/2024 |
