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. 2019 Mar 14;4(7):1031–1035. doi: 10.1016/j.ekir.2019.03.005

Figure 2.

Figure 2

(a) Integrated Genomics Viewer visualization of COL4A5 nonsense mutation c.3178G>T (p.Gly1060*); 181 reads demonstrated the single nucleotide threonine substitution versus 39 reads containing the wild-type guanine residue. (b) Sanger sequencing confirms the allelic imbalance of G>T at c.3178 in COL4A5. Top trace is a synthetic control; bottom trace is the patient’s forward strand data showing a T:G ratio of approximately 80:20. The reverse strand also confirmed the finding (data not shown for brevity).