. Author manuscript; available in PMC: 2022 Jan 4.

Published in final edited form as: Am J Med Genet A. 2021 Jun 4;185(9):2719–2738. doi: 10.1002/ajmg.a.62362

TABLE 3.

Analysis of variants pathogenicity and frequency in the population

	Variant			Variant frequency
Gene	CDS	Protein	Mutation Taster	dbSNP	gnomAD (Mut/ref^a)	1000G
CCND2	c.305delG	p.G102Vfsx17	Disease causing	Not present	0/251466	Not present
CCND2	c.416_419dupGGGA	p.L141GfsX19	Disease causing	Not present	0/249026	Not present
CCND2	c.544C>T	p.Q182X	Disease causing	Not present	0/248742	Not present
GBA	c.882T>G	p.H294Q	Disease causing	Not present	0/279868	Not present
TENM1	c.679C>A	p.P227T	Disease causing	Not present	0/156640	Not present

Notes: Genetic variants found in individuals LR19-002, LR19-392, LR20-198 m, LR20-198a1, and LR20-198a2 are listed with their respective prediction of pathogenicity (Mutation Taster) and frequency in the population based on data collected in dbSNP, gnomAD, and 1000 Genome project (1000G) (results as of April 5, 2021).

For gnomAD reference allele frequency, data for the closest variant in the database were used to estimate the coverage of the region.