Congenital hepatic fibrosis with novel mutations in PKD1 gene masquerading as early cryptogenic cirrhosis: a rare case report

Egyptian Liver Journal

Table 1 The summary of the novel mutations in PKD1 gene in this patient with congenital hepatic fibrosis

Gene	Exon location	Nucleotide change	Amino acid change	Zygosity
PKD 1	Exon 15	c.6223C>T	p.Arg2075Cys	Heterozygous
PKD 1	Exon 11	c.2534T>C	p.Leu845Ser	Heterogenous