TABLE 1.

Clinical description and prediction of the pathogenesis of PKHD1 mutations.

Nucleotide change	Amino acid change	Zygosity	Mutation type	ACMG criteria	Mutation Taster	PROVEAN	SIFT	PolyPhen-2
c.5850_5851 insTTCAT	p.Gly1951Phefs	Het	Frameshift	P (PVS1 + PM2 + PP1)	Disease causing	NA	NA	NA
c.8710G > A	p.Glu2904Lys	Het	Missense	LP (PM1 + PM2 + PP1 + PP3)	Disease causing	−2.80 deleterious	0.01 damaging	0.999 probably damaging

Het, heterozygous; P, pathogenic; LP, likely pathogenic; NA, not available.