Skip to main content

Table 2 The results of the genomic sequence analysis

From: Acute kidney injury due to thin basement membrane disease mimicking Deferasirox nephrotoxicity: a case report

 c.127G > C p.G43R heterozygous benign
 c.422 T > C p.L141P homozygous benign
 c.485A > G p.E162G homozygous benign
 c.805G > A p.E269K heterozygous benign/likely benign
 c.1721C > T p.P574L heterozygous benign
 c.839 T > G p.M280R heterozygous unreported
 c.1444C > T p.P482S heterozygous benign
 c.2656C > A p.L886I heterozygous synonymous
 c.3011C > T p.P1004L heterozygous benign
 c.3979G > A p.V1327 M homozygous benign
 c.4207 T > C p.S1403P homozygous benign