Molecular Vision: Huckfeldt, Mol Vis 2020; 26:423-433. Table 2

Table 2. RP1 genotypes grouped by mutation effect on protein.

Genotype category	Exons involved	Patient	Clinical diagnosis	Symptom onset (y)	Median onset age (y; range)
Two missense mutations	2, 2	MEE1^a	MD	30	22.0 (16–30)
	2, 2	MEE2^a	RP	25
	2, 2	MEE3	RP	22
	2, 2	MEE4	CRD	20
	2, 2	CEI29345	RP	16

Missense variant plus protein-truncating or protein null mutation	2, 2	MEE5	RP	30	20.0 (10–30)
	2, 4	MEE13	RP	28
	2, 4	CEI23745	RP	27
	2, 4	CEI26528^a	CRD	12
	2, 4	CEI26529^a	CRD	13
	2, 4	CEI29023	EOSRD	10

Two protein-truncating or protein null mutations	2, 4	CEI24459	RP	15	5.0 (4–15)
	3, 4	MEE10	RP	5
	3, 4	MEE11	RP	5
	4, 4	MEE7	RP	4
	4, 4	MEE8	RP	7
	4, 4	MEE9	RP	4
	4, 4	MEE12	RP	4
	4, 4	CEI26396	LCA	6