These were further reduced by removal of synonymous, nonsense and splice variants leaving 12 potentially amyloidogenic variants that were further investigated (Table 1 Two mutations are known to negatively impact function of the TTR protein, resulting in amyloidosis: c.238A>G(p.Thr80Ala) and c.424G>A(p.Val142Ile) [5, 14–16]. Here, TTR is linked to amyloidosis.