Table 1.

Diseases selected for molecular validation and genomic analysis.

Disease name	Abbreviation	Mode of inheritance	Causal genes	Variants analyzed
Alpha-1-antitrypsin deficiency	A1ATD	Autosomal recessive	SERPINA1	rs28929474 (E342K; Z-allele)
Hereditary hemorrhagic telangiectasia	HHT	Autosomal dominant	ACVRL1; ENG; SMAD4	P/LP ClinVar variants;novel loss-of-function
Marfan syndrome	MFS	Autosomal dominant	FBN1	P/LP ClinVar variants;novel loss-of-function
Alport syndrome	AS	Autosomal dominant, X-linked	COL4A3; COL4A4; COL4A5	P/LP ClinVar Variants;novel loss-of-function
Autosomal dominant polycystic kidney Disease	ADPKD	Autosomal dominant	PKD1; PKD2	P/LP ClinVar variants;novel loss-of-function