Table 3.

Sequence variants detected in the SLC7A8 gene

Patient	Variant	Bioinformatics	Databases
12,388	c.47C > G; p.Pro16Arg a	CADD: 18.69 (Deleterious) SIFT: tolerated PolyPhen−2: benign Mutation taster: polymorphism Mutation Assessor: neutral	rs147920363 ExAC (G): 0.001 gnomAD genome (G): 0.0035 gnomAD exome (G): 0.0009 NHLBI ESP (G): 0.0032
6320–17673	c.52G > T; p.Gly18Trp b	CADD: 33 (Deleterious) SIFT: deleterious PolyPhen−2: possibly damaging Mutation Taster: disease causing Mutation Assessor: low impact	rs144958980 ExAC (T): 0.0017 gnomAD genome (T): 0.0058 gnomAD exome (T): 0.0014 NHLBI ESP (T): 0.0058
4,947	c.86C > T; p.Ser29Phe a	CADD: 25.1 (Deleterious) SIFT: deleterious PolyPhen−2: benign Mutation Taster: disease causing Mutation Assessor: low impact	rs149980964 ExAC (T): 0.008 gnomAD genome (T): 0.0019 gnomAD exome (T): 0.0072 NHLBI ESP (T): 0.0028
15,318	c.1017−49T > Cb	None	No; 0/542 controls

bold, likely pathogenic variant.

^aParents not available

^b De novo