A Rare Variant in PGAP2 Causes Autosomal Recessive Hyperphosphatasia with Mental Retardation Syndrome, with a Mild Phenotype in Heterozygous Carriers

Table 3

Candidate variants within homozygous loci.

Gene	Genomic position	Transcript variant	Protein variant	dbSNP ID
RFX	Chr15:56,382,731-56,535,483	c.3980A>G	p.(N1327S)	—
OR10A5	Chr11:6,866,914-6,867,867	c.277A>G	p.(I93V)	rs540522650
TUB	Chr11:8,060,180-8,127,654	c.1133G>A	p.(R323Q)	rs749889465
PGAP2	Chr11:3,819,049-3,847,601	c.554G>A	p.(R185Q)	rs745521288