Sequencing Alpha-1 MZ Individuals Shows Frequent Biallelic Mutations

Table 2

NGS SERPINA1 Genotype	Variant Significance	Participant; Age	Ever-; Smoker	COPD Severity Score	AAT level (uM at enrollment)	RepeatAAT level (uM)
ZZ	Pathogenic	59	Yes	17	13.8	31.1
SZ	Pathogenic	18	No	2	12.3	9.3
FZ	Pathogenic	58	No	12	15	13
ZSmunich	Likely Pathogenic	67	Yes	4	13.6	11.3
ZM2Obernburg	Uncertain	34	Yes	3	15.5	14
Z/c.922G>T (p.Ala308Ser)	Uncertain	65	No	3	14.8	13

On augmentation therapy at the time of testing.