DYSF and intrahepatic cholangiocarcinoma: Of the 9 mutants showing PM localization by ICC, 2 have been shown or predicted to cause exon skipping (R2019K and R1810K) and produce nonfunctional proteins and 3 DYSF mutants, I1607T, R1331L, and K1526T, are likely being benign; as I1607T and R1331L are found in individuals with other homozygous PMMs with 2A-values <0.25, and K1526T is cis with another pathogenic DYSF variant.