Table 2.

Sequence variants detected in the SLC7A5 gene

Patient	Variant	Bioinformatics	Databases
14,988 Hom; 9754–12388–12970 Het	c.690C > G; p.Asn230Lys	CADD: 7.151 (not deleterious) SIFT: tolerated PolyPhen−2: benign Mutation Taster: disease causing Mutation Assessor: neutral Lost 2 ESEs	rs1060250 ExAC (G): 0.0046 gnomAD genome (G): 0.0145 gnomAD exome (G): 0.0035 NHLBI ESP (G): 0.0175
10,471	c.1123C > A; p.Pro375Thr a	CADD: 25.1 (deleterious) SIFT: deleterious PolyPhen−2: probably damaging Mutation Taster: disease causing Mutation Assessor: medium risk	No; 0/542 controls
17,410	c.816−18C > T a	Abnormal quantile signal at acceptor splice site	rs754179345; 0/542 controls ExAC (T): 1.67E−05 gnomAD genome (T): 6.47E−05 gnomAD exome (T): 1.63E−05 NHLBI ESP (G): no data
15,301	c.1290 + 44G>Aa	Lost 1 ESE	rs774937771 ExAC (G): no data gnomAD genome (G): 9.69E−05 gnomAD exome (G): 8.43E−06 NHLBI ESP (G): no data

Abbreviations: Hom, homozygous; Het, heterozygous; ESE, Exon splicing enhancer.

bold, likely pathogenic variant.

^a De novo.