Table 1.

Phosphodiesterase (PDE) gene variants associated with retinitis pigmentosa.

Gene	Function	Phenotype other than primary disease	Location	Mutation	dnSNP, ExAC, RCV (if available)
PDE6A	Phototransduction	None	5q33.1	Tyr583Ter	dnSNP:rs121918576
					RCV000013989
				Ser344Arg	dbSNP:rs121918577
					RCV000013990
				Trp61Ter	dbSNP:rs121918578
					RCV000013991
				Val685Met	dbSNP:rs121909835
					ExAC:rs121909835
					RCV000022755
				IVS10AS, A-G,−2	dbSNP:rs1060499536
					RCV000210743
PDE6B	Phototransduction	Dominant congenital stationary night blindness	4p16.3	Gln298Ter	dbSNP:rs121918579
					ExAC:rs121918579
					RCV000013982
				Arg31Ter	dbSNP:rs121918580
					ExAC:rs121918580
					RCV000013983
				1-bp del, NT17981	dbSNP:rs730880317
					RCV000013984
				His557Tyr	dbSNP:rs121918581
					ExAC:rs121918581
					RCV000132576
					RCV000013985
				His258Asn	dbSNP:rs121918582
					RCV000013986
				71-BP DU	RCV000013987
				Trp807Arg	dbSNP:rs121918583; RCV000013988
				Arg60Cys	dbSNP:rs201541131; RCV000201856
PDE6G	Phototransduction	None	17q25.3	IVS3DS, G-T, +1	RCV000013981