- Variants classified as benign in databases (+) or functionally normal in our assay (Normal) are shown in green. Variants classified as pathogenic in databases (-) or functionally abnormal in our assay (Abnormal) are shown in red. Variants with conflicting interpretation are shown in orange (+/-), unreported mutations are shown in yellow (?). Variants with an intermediate score are shown in blue. Functional scores of variants already characterized by Findlay et al. [25] are included where available. Variants which were characterized in our laboratory are marked (X), the others were selected in the databases
