| Gene | Gene Omim Number | Disease Omim Number | Chromosome Location | Gene Mutation | Allelic Variant | Omim Phenotype | Sample Count |
| XPA | 278700 | 278700 | 9q22.3-q31 | 3-PRIME SPLICE SITE, INTRON 3 | 0001 | XERODERMA PIGMENTOSUM, TYPE A | 4 |
| XPA | 278700 | 278700 | 9q22.3-q31 | 374delC | | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A | 2 |
| XPA | 278700 | 278700 | 9q22.3-q31 | 389G>A | | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A | 3 |
| XPA | 278700 | 278700 | 9q22.3-q31 | 468_469delAA | | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A | 1 |
| XPA | 278700 | 278700 | 9q22.3-q31 | 555G>C | | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A | 11 |
| XPA | 278700 | 278700 | 9q22.3-q31 | 5BP DEL | 0003 | XERODERMA PIGMENTOSUM, TYPE A | 3 |
| XPA | 278700 | 278700 | 9q22.3-q31 | A>G change in intron 3 | | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A | 1 |
| XPA | 278700 | 278700 | 9q22.3-q31 | ARG207TER | 0005 | XERODERMA PIGMENTOSUM, TYPE A | 1 |
| XPA | 278700 | 278700 | 9q22.3-q31 | ARG211TER | | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A | 1 |
| XPA | 278700 | 278700 | 9q22.3-q31 | ARG228TER | 0004 | XERODERMA PIGMENTOSUM, TYPE A | 2 |
| XPA | 278700 | 278700 | 9q22.3-q31 | c.507-2A>G (IVS3-2A>G) | | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A | 1 |
| XPA | 278700 | 278700 | 9q22.3-q31 | CYS108PHE | 0002 | XERODERMA PIGMENTOSUM, TYPE A | 2 |
| XPA | 278700 | 278700 | 9q22.3-q31 | G>T transversion in intron 3 | | XERODERMA PIGMENTOSUM, COMPLEMENTATION GROUP A | 5 |