Table 1.

Allele frequencies and bioinformatic predictions of the NUS1 c.537T>A variant.

Variant		Zygosity	dbSNP154 rs number	Allele frequencies			Bioinformatic predictions
Nucleotide change	Amino acid change			1,000 Genomes Project	ExAC	gnomAD	MutationTaster	SIFT	PROVEAN	PANTHER	PolyPhen-2
c.537T>A	p.Asp179Glu	Heterozygote	rs28362519	2 × 10−3	6.802 × 10−4	6.824 × 10−4	Disease causing	Tolerated	Neutral	Probably benign	Benign

dbSNP154, Single Nucleotide Polymorphism Database version 154; rs, Reference SNP; ExAC, Exome Aggregation Consortium; gnomAD, Genome Aggregation Database; SIFT, Sorting Intolerant from Tolerant; PROVEAN, Protein Variation Effect Analyzer; PANTHER, Protein Analysis Through Evolutionary Relationships; PolyPhen-2, Polymorphism Phenotyping version 2.