Table 2.

FGD1 (NC_000023.11)

Chr: position GRCh37 (hg19)	HGVS cDNA	HGVS protein reference	HGVS protein	Variant type	Predicted effect	Genotype
X: 54472667	c.2761C>T	NP_004454.2	p.Arg921X	Nonsense	Aarskog–Scott syndrome	Hemizygous

HGVS, Human Genome Variation Society.