Whole-Exome Sequencing Reveals a Rare Missense Variant in SLC16A9 in a Pedigree with Early-Onset Gout

Table 2

Variant identified in patients with early-onset gout.

ID	Variant	Type	Frequency (allele count)				In silico assessments
			gnomAD	ExAC	ESP	1K	Polyphen-2	MutationTaster	LRT	M-CAP
II:4	c.277C>A, p.L93M	Hetero	0.0032% (8)	0.0033% (4)	0	0.04% (2)	Damaging	Damaging	Damaging	Possibly pathogenic
III:2	c.277C>A, p.L93M	Hetero	0.0032% (8)	0.0033% (4)	0	0.04% (2)	Damaging	Damaging	Damaging	Possibly pathogenic