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Identification of candidate COL4A5 variants in 2 Korean families with Alport syndrome. (A, B) Pedigree of cases 1 and 2, where filled symbols indicate Alport syndrome and open symbols indicate normal subjects. The proband is marked with an arrow. (C, D) Electropherograms are shown. A heterozygous c.4688G>A mutation causing p.Arg1563Gln in exon 48 and a heterozygous c.2714G>A mutation causing p.Gly905Asp in exon 32 were identified in cases 1 and 2, respectively (NM_000495.4).
