Table 1. OVOL2 promoter and 5’ UTR variants identified in 27 probands with PPCD.

Proband ID	# of Probands	Identified Variant	Gene Region	Heterozygosity	RS number	MAF
P1*	1	c.-307T>C	Promoter	Heterozygous	rs869320629	N/A
P2	1	c.-1388C>G	Promoter	Heterozygous	rs73252038	0.0323
		c.-186G>A	5’ UTR	Heterozygous	rs73252036	0.0313
		c.-72G>A	5’ UTR	Heterozygous	rs538188467	0.0142
P3	1	c.-61G>A**	5’ UTR	Heterozygous	Novel	N/A
P4 -P9	6	c.-1409G>C	Promoter	Heterozygous	rs41276412	0.0541
P10-P27	18	None identified	-	-	-	-

* Proband belongs to a family previously mapped to the PPCD1 locus;

** Variant was not present in the proband's affected parent