Fig. 6

Comparison of average urine levels of amino acids between the different severity score groups using Condel and CADD. a and b Individuals with b(o+)AT mutations. c and d Individuals with rBAT mutations. There is one plot per integrated prediction method (CADD and Condel) for each gene. The group numbers are given at the bottom of the plots, with the sample number given in brackets underneath the group name. Where significant differences between groups occur (p < 0.05) the p-value is displayed on the plot, e.g. (1–2) p = 0.001 means a significant difference between groups 1 and 2