From: Congenital hepatic fibrosis with novel mutations in PKD1 gene masquerading as early cryptogenic cirrhosis: a rare case report
Gene
Exon location
Nucleotide change
Amino acid change
Zygosity
PKD 1
Exon 15
c.6223C>T
p.Arg2075Cys
Heterozygous
Exon 11
c.2534T>C
p.Leu845Ser
Heterogenous