A case report of atypical autosomal dominant polycystic kidney disease presenting as glomerulocystic kidney superimposed with thin basement membrane nephropathy

Table 2 Summary of the pathogenic mutations

Gene	Genomic Location	Mutation Designation	Exon Region	Zygosity
PKD1	chr16:2169114–2,169,186	NM_001009944.2:EX3 Del	Exon 3	Heterozygote
NPHP1	chr2:110905572	NM_000272.3:c.1358G > T(p.Gly453Val)	EX13/CDS13	Heterozygote

Details of NGS sequencing: The NGS was performed on MGISEQ-2000 sequencing platform. ACMG criteria for the PKD1 variant was PVS1_Moderate + PP4 as reported previously [12], ACMG criteria for NPHP1 variant was PM2 + PP3 by SIFT, MutationTaster, Condel, and SpliceAI(1.3) softwares

ISSN: 1471-2369