AATD is usually associated with single amino acid substitutions/deletions leading to subtle structural changes to the AAT protein; however, this study also identified splice variants, stop codons, and large deletions in SERPINA1. The potential contribution of these sequence variants to AATD should not be underestimated, especially when occurring in combination with damaging structural mutations. Here, SERPINA1 is linked to alpha 1-antitrypsin deficiency.