Figure 2

ABCB11 variant summary in a 2-dimensional illustration. 48 variants are divided into their phenotypic presentation and coloured by: No phenotype previously reported (n = 19), cholestatic phenotype reported in the literature (n = 14), gallstone disease (n = 10), and intrahepatic cholestasis of pregnancy (n = 5). Bold border represents variants that are unique to the Genes & Health cohort. Topo2 software (Johns S.J., TOPO2, Transmembrane protein display software, http://www.sacs.ucsf.edu/TOPO2) was used for illustration95.