A Novel COL4A5 Mutation Identified in a Chinese Han Family Using Exome Sequencing

Figure 2

Sequencing analysis of COL4A5 c.499delC (p.Pro167Gln𝑓𝑠^∗36) mutation. The arrow shows site of the novel c.499delC (p.Pro167Gln𝑓𝑠^∗36) deletion mutation in the COL4A5 gene. (a) Heterozygous mutation carrier (III: 1). (b) Hemizygous mutation carrier (III: 3).

(a)

(b)