TABLE 3.

List of likely and reported pathogenic AP‐4 variants used for PathProx analysis

Variant/mutant	Subunit
R206Q (ClinVar)	β4
R107Q (ClinVar)	β4
V193I (Lamichhane et al. 2013) 13	β4
L443P (Ebrahimi‐Fakhari et al. 2018) 14	β4
V442I (ClinVar)	ε
G250S (ClinVar)	μ4
F416L (ClinVar)	μ4
E193K (Najmabadi et al. 2011) 15	μ4
Q319R (Bettencourt et al. 2017) 16	μ4
C326R (ClinVar)	μ4