Variants found in CLU observed in more than one individual in the UK series.

Nucleotide numbering reflects cDNA numbering with +1 corresponding to the A of the ATG translation initiation codon in the reference sequences (CLU: NM_001831.2). The initiation codon is codon 1. Genomic numbering refers to reference sequence NC_000008.9. Protein numbering refers to sequence NP_001822.2. p values presented here are uncorrected for multiple testing(none is statistically significant after Bonferronni correction). Prediction of pathogenicity was performed in silico using the PolyPhen software [27], [28], [29].