Causative mutation shows the gene and location of the mutation site in lines where this has been confirmed empirically, otherwise the location is estimated from linkage disequilibrium (LD) data. Significance column indicates adjusted p-value (***: < 0.001, **: < 0.01; *: < 0.05). Odds ratio compares DE likelihood at maximum LD versus site of median LD. The nearby genes column shows the number of DE genes lying within a 20 Mbp window centred on the mutation site, and the percentage of these genes out of the total DE genes. In-table citations: 1(Barlow et al., 2020), 2(Miesfeld et al., 2015), 3(Armant et al., 2016). nl14 line kindly provided by Alex Nechiporuk.