Table 2.

Novel AIP mutations not previously reported. gnomAD: http://gnomad.broadinstitute.org/

AIP mutation	MAF in gnomAD	Variant type	In silico prediction*	Probability score†	Gender	Familial versus simplex	Diagnosis‡	Age at diagnosis	Age at onset
c.240_241delinsTG (p.M80_R81delinsIG)	Not reported	Insertion deletion	High	Disease causing 1	M	Simplex	Gigantism	8	5
c.333delC (p.K112Rfs*44)	Not reported	Frameshift	High	Disease causing 1	F	Simplex	Gigantism	9	7
c.376_377delCA (p.Q126Dfs*3)	Not reported	Frameshift	High	Disease causing 1	F	Simplex	Gigantism	13	10
c.605A>G (p.Y202C) §	Not reported	Missense	High	Disease causing 0.99	M	Simplex	Gigantism	10	10
c.645+1G>C (p.?)	Not reported	Splicing	High	Disease causing 1	M	Simplex	Acromegaly	33	24
c.991T>C (p.331Rext91)	Not reported	Missense	High	Polymorphism 0.99	M	Simplex	Gigantism	16	12

*In silico prediction of probability of damaging mutation by Variant Effect Predictor and Anovar.

†Probability of pathogenic mutation by Mutation Taster.

‡All patients had macroadenoma, and none of them presented with pituitary apoplexy.

§This missense variant affects position 22 in the first tetratricopeptide domain of AIP, a well-conserved position in various tetratricopeptide domain proteins.^{32 38}

AIP, aryl hydrocarbon receptor-interacting protein; MAF, minor allele frequency.