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Chromatograms of novel pathogenic mutations. The corresponding amino-acid sequences are indicated above each tracing. Arrows indicate the mutation.
A. Frameshift mutation: HNF1B c.1054_1055insA
B. Missense mutation: PAX2 c.71G>A
C. Splice site mutation: PAX2 (IVS4-1G>T)
For= Sequencing in the forward direction. Rev= Sequencing in the reverse direction. WT= wild type.
