| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| Xeroderma Pigmentosum, Group A (XPA) | sensitive to sunlight&abnormal pigments | Autosomal Recessive | 9q22.33 | Deletion | XPA | 654delA | Lys218Asnfs*5 | Frame shift mutation & PTC | 0/Nasir et al., 2013 |
| Xeroderma Pigmentosum, Group A (XPA) | sensitive to sunlight&abnormal pigments | Autosomal Recessive | 9q22.33 | Splice site | XPA | 555+8A>G | Frame shift mutation | 0/Sethi et al., 2016 | |
| Xeroderma Pigmentosum, Group A (XPA) | sensitive to sunlight&abnormal pigments | Autosomal Recessive | 9q22.33 | Nonsense | XPA | 682C>T | Arg228* | Premature Termination | 0/Sethi et al., 2016 |
| Xeroderma Pigmentosum, Group A (XPA) | sensitive to sunlight&abnormal pigments | Autosomal Recessive | 9q22.33 | Duplication | XPA | c.291dupT | p.Asp98* | Premature Termination | Ali et al., 2020/2020 |
