Table 1 Search strategy

Search string

Title/abstract: "alpha 1 antitrypsin" OR "alpha1 antitrypsin" OR "AAT " OR "AATD" OR "A1ATD" OR "alpha 1 protease inhibitor" OR "alpha1 protease inhibitor" OR "A1-PI" OR "A1PI" OR "SERPINA1"

AND

Title/abstract: "variant" OR "allele" OR "mutation" OR "polymorphism" OR "splice" OR "deletion" OR "missense" OR "gene" OR "genotype" OR "registry" OR "registries" OR "diagnosis" OR "testing" OR "test"

NOT

Publication type: Review

Study/publication type

Inclusions: Clinical trials, original research articles, multi-center studies, single center studies, or case reports reporting AATD/SERPINA1 alleles/variants, genotypes, or phenotypes

Exclusion: Review papers, opinion pieces, guidelines, meta-analyses, systematic reviews, editorials, commentaries, articles not reporting original data, articles that have been retracted

Subjects

Inclusion: Data collected from human subjects

Exclusion: Animal models