COL4A4 and Alport syndrome: Twelve individuals (male 75%) had autosomal recessive Alport syndrome (ARAS) due to homozygous or compound heterozygous pathogenic or likely pathogenic variants in COL4A3 or COL4A4. 4/12 individuals had missense variants affecting glycine residues and 4/12 individuals had missense variants affecting non-glycine residues.