Compound Mutations of the COL4A3 including a Novel Allele Identified in a Patient with Alport Syndrome

Table 1

Detected mutations.

Gene	Nucleotide changes	Amino acid change	Heterozygosity	SIFT	Polyphen-2	Mutation taste
Col4A3	c.4243G>C	p.G1415R	Het	Damaging	Probably damaging	Damaging
Col4A3	c.4216G>A	p.G1406R	Het	Damaging	Probably damaging	Damaging