Table 1. PROM1 Mutations identified in patients with inherited retinal dystrophies,

Exon / Intron	Base Change	Amino Acid Substitution	Phenotype	Reference
Recessive Mutations
Exon 4	c.442A>T	p.K148X	arRP	[18]
Exon 5	c.622delA	p.T208Lfs22X	arRP	[19]
Exon 6	c.642T>A	p.Y214X	arRP	[20]
Exon 7	c.730C>T	p.R244X	arCRD	[21]
Exon 8	c.869delG	p.S290IfsX	arRP with macular degeneration	[22]
Intron 10	c.1142–1G>A		arCRD	[7]
Exon 11	c.1157T>A	p.L386X	arCRD	[23]
Exon 11	c.1209–1229del	p.Q403-S410del;insH	arRP	[20]
Exon 12	c.1349insT	p.Y452Ffs38X	arCRD	[9]
Exon 12	c.1355_1356insT	p.Y453Lfs11X	arRP	[19]
Intron 12	c.1454+2T>C		arCRD	[24]
Intron 13	c.1579–1G>C		arCRD	[24]
Exon 15	c.1697dupA	p.N566KfsX	arCRD	[25]
Exon 15	c.1726C>T	p.Q576X	arRP with macular degeneration	[26]
Exon 16	c.1841delG	p.G614Efs12X	arRP with macular degeneration	[8]
Intron 17	c.1983+1G>T		arCRD	[21]
Intron 17	c.1984–1G>T		arCRD	[24]
Intron 18	c.2077–521A>G		arCRD	[17]
Intron 21	c.2281–26_-17del	p.I761-L791del	arCRD	Current study
Exon 23	c.2383T>C	p.W795R	arCRD	[24]
Dominant Mutations
Exon 1	c.7dup	p.L3Pfs28X	adCRD	[24]
Exon 10	c.1117C>T	p.R373C	ad Stargardt-like MD, ad bull's-eye MD, adCRD	[6]

ar, autosomal recessive; ad, autosomal dominant; RP, retinitis pigmentosa; CRD, cone-rod dystrophy; MD, macular dystrophy