Table 2.

Potentially causative variants identified by exome sequencing.

Gene transcript	HGVS rs-ID	Zyg.	Associated disease (Inheritance)	gnomAD allele count	gnomAD constraint metrics
TBK1 NM_013254.4	c.1760 + 4_1760 + 7del; p.? rs753802322	hom	Severe COVID-19 (AD); Susceptibility to acute infection-induced encephalopathy 8 (AD); Frontotemporal dementia and/or amyotrophic lateral sclerosis 4 (AD)	1 (het) / 0 (hom)	pLI: 0.08 Missense-Z: 1.9 o/e (LoF): 0.25 (0.16-0.42) o/e (Missense): 0.72 (0.65-0.79)
TNFRSF13B NM_012452.2	c.310 T > C; p.(Cys104Arg) rs34557412	hom	Common variable immune deficiency 2 (AD / AR); Immunoglobulin A deficiency 2 (?)	983 (het) / 4 (hom)	pLI: 0 Missense-Z: −1.2 o/e (LoF): 1.73 (1.14-1.96) o/e (Missense): 1.26 (1.13-1.41)

Note that gene symbols are italicized.

HGVS sequence variant description in accordance with the recommendations of the human genome variation society, rs-ID dbSNP reference single-nucleotide polymorphism number, Zyg Zygosity, hom homozygous, het heterozygous, AD autosomal-dominant, AR autosomal-recessive, pLI probability of loss of function intolerance, Missense-Z Z-score indicating the depletion of missense variants from a gene, o/e observed/expected metric with its 90% confidence interval shown in brackets for loss-of-function (LoF) or missense variants.