Molecular and clinical characterization of autoimmune polyendocrinopathy-candidiasis-ectodermal dystrophy syndrome (APECED) in Iranian non-Jewish patients: report of two novel AIRE gene pathogenic variants

Table 4 Results of in silico analysis of the splice site variants found in this study

Variant	Mutation taster	Human splice finder	BDGP	NetGen2	CADD C-score^a
c.308-1G>C	Disease causing	Broken WT Acceptor Site	WT = 0.85; MUT = NR	WT = 0.99; MUT = NR	26.2
c.1095+2T>A	Disease causing	Broken WT Donor Site	WT = 0.97; MUT = NR	WT = 0.95; MUT = NR	23.0

ISSN: 1750-1172