Table 1.

Variants from whole-exome sequencing by family member

Gene	Family member affected	Variant (rs#/type/protein change)	Referent/alternate allele (genotype)	HGVS DNA reference	HGVS protein reference	ExAC AF (%)
SCNN1B	Child, father	rs137852704/stop gain/p.Arg566*	C/T (heterozygous)	NM_000336	NP_000327	8.263 × 10−6
SCNN1A	Father	rs5742912/missense/ p.Trp552Arga	A/G (heterozygous)	NM_001159576	NP_001153048	0.018

HGVS, Human Genome Variation Society; ExAC, Exome Aggregation Consortium; AF, allele frequency.

^aPredicted clinical significance of benign/pathogenenic, SIFT (0), PolyPhen (0.993).