Fig. 2
From: Genetic and molecular dynamics analysis of two variants of the COL4A5 gene causing Alport syndrome
The genetic sequencing outcomes of two Chinese patients diagnosed with AS, who are not biologically related, were analyzed. (A) The gene sequencing results of patient 1. The utilization of WES and Sanger sequencing has led to the identification of a novel deletion variant, c.4414delG, located in exon 47 of the COL4A5 gene in patient (1) The present variation has been indicated by a red arrow. (B) The gene sequencing results of patient (2) According to the bioinformatics software, dbscSNV and SpliceAI, it is predicted that this variant may lead to anomalous splicing of the COL4A5 gene. The present variation has been indicated by a red arrow