Table 2.

Whole-genome sequencing results: variant table

Gene	Chromosome	HGVS DNA	HGVS protein	Variant type	Predicted effect	gnomAD	Zygosity	Inheritance	dbSNP ID	ClinVar ID	Classifi cation
ETHE1	Chr 19	NM_014297.5: c.131_132delAG	p.(Glu44Valfs*62)	Frameshift	Premature truncation codon	3/251040	Homo-zygous	Biallelic	rs761827730	504493	Class 5; pathogenic