. 2019 Apr 29;10(2):163–169. doi: 10.1016/j.jceh.2019.04.051

Table 3.

Frequency of HJV D355Y Mutation (1:145416718 G/T). http://exac.broadinstitute.org/variant/1-145416718-G-T, rs782371683, Accessed 02/02/2019.

Mutation	Coverage^a	ExAC All	ExAC SA	gnomAD	SIFT prediction	Polyphen2 prediction (score)
D355Y	204/169	0.000008239	0.00006057	0.00001219	Damaging	Probably damaging (1.0)

ExAC, Exome Aggregation Consortium; gnomAD, Genome Aggregation Database; Polyphen2, Polymorphism Phenotyping v2; SA, South Asia; SIFT, Sorting Intolerant from Tolerant.

http://exac.broadinstitute.org/variant/1-145416718-G-T, rs782371683, Accessed 02/02/2019.

Depth of coverage in case 1/case 2.