| Disease Name | phenotype | Inheritance Mode | Chr Location | Mutation Type | Gene Name | mRNA Variant | Protein Variant | Effect | Reference |
| cystic fibrosis (CFTR) | Autosomal Recessive | 7q31.2 | Missense | CFTR | 1778G>A | Ser549Asn | Amino Acid Substitution | 0/Curtis et al., 1993 |
