Characterisation of AIP missense mutations identified in the various patients and investigated in this study
| Variant | MAF in GnomAD | Typical phenotype (young, growth hormone (GH)-secreting adenoma) | LOH | Functional data | In silico prediction | Drosophila rescued |
| c.38T>A, p.I13N | 8.25E-06 | Young, GH-secreting adenoma | Yes | Not studied | Probably damaging | No |
| c.47G>A, p.R16H | 0.001956 | Familial cases, GH-secreting adenoma | No | Non-pathogenic | Probably damaging | Yes |
| c.217T>C, p.W73R | 0 | Young, GH-secreting adenoma | Not studied | Not studied | Probably damaging | No |
| c.491A>G, p.Q164R | 0 | Young, GH-secreting adenoma | Not studied | Not studied | Benign | Yes |
| c.713G>A, p.C238Y | 8.42E-06 | Familial cases, GH-secreting adenoma | Yes | Pathogenic | Probably damaging | No |
| c.815G>A, p.G272D | 0 | Elderly, GH-secreting adenoma | Not studied | Not studied | Probably damaging | No |
| c.878A>T, p.E293V | 0 | Elderly, GH-secreting adenoma | Not studied | Not studied | Benign | Yes |
| c.896C>T, p.A299V | 4.00E-04 | No | Not studied | Non-pathogenic | Benign | Yes |
| c.911G>A, p.R304Q | 0.001458 | Multiple cases | No | Non-pathogenic | Benign | Yes |
| c.940C>T, p.R314W | 4.03E-05 | Young, GH-secreting adenoma | Not studied | Not studied | Probably damaging | Yes |
| c.974G>A, p.R325Q | 0.000058 | Young, prolactin-secreting adenoma | Yes | Non-pathogenic | Benign | Yes |
AIP, aryl hydrocarbon receptor-interacting protein gene; MAF, minor allele frequency.