Table 3.

List of mutations reported in C8ORF37, OFD1 and TULP1 associated retinopathies

Gene	Variation			Disease	References
	Nucleotide	Amino acid	Domain
C8ORF37	c.155+2T>C	–	–	CRD	[56]
C8ORF37	c.156−2A>G	–	–	CRD	[15, 18]
C8ORF37	c.243+2T>C	–	–	RP	[21]
C8ORF37	c.244−2A>C	–	–	RP	[17]
C8ORF37	c.374+2T>C	–	–	EORD	[20]
C8ORF37	c.497>A	p.L166*	–	RP	[15, 18]
C8ORF37	c.529C>T	p.R177W	–	CRD, BBS	[15, 18, 19, 22]
C8ORF37	c.545A>G	p.Q182R	–	RP	[15, 18]
C8ORF37	c.555G>A	p.W185*	–	RP	[17], this study
C8ORF37	c.575delC	p.T192Mfs*28	–	EORD	[20]
OFD1		p.T120A	–	RP	This study
OFD1	IVS9+706A>G	p.N313fs*330	Coiled coil domain	RP	[13]
TULP1	c.3G>A	p.M1I	–	RP	[25]
TULP1	c.99+1G>A	–	–	LCA, RP	[23, 26]
TULP1	c.280G>T	p.D94Y	–	LCA	[27]
TULP1	c.286_287delGA	p.E96Gfs*77	–	RP	[57]
TULP1	c.350−2delAGA	–	–	RP	[28]
TULP1	c.394_417del	p.E120_D127del	–	RP	[29]
TULP1	c.539G>A	p.R180H	–	LCA	[30]
TULP1	c.627delC	p.S210Qfs*27	–	LCA	[31]
TULP1	c.629C>G	p.S210*	–	RP	[32]
TULP1	c.718+2T>C	–	–	LCA, RP	[33]
TULP1	c.725_728delCCAA	p.P242Qfs*16	–	LCA	[34]
TULP1	c.901C>T	p.Q301*	Tubby domain	LCA, CRD	[35, 36]
TULP1	c.937delC	p.Q301fs*9	Tubby domain	RP	[28]
TULP1	c.932G>A	p.R311Q	Tubby domain	RP	[37]
TULP1	c.956G>A	p.G319D	Tubby domain	RP	[38]
TULP1	c.961T>G	p.Y321D	Tubby domain	LCA	[34]
TULP1	c.999+5G>C	–	Tubby domain	LCA, RP	[33]
TULP1	c.1025G>A	p.R342Q	Tubby domain	RP	[37]
TULP1	c.1047T>G	p.N349K	Tubby domain	RP	[39]
TULP1	c.1064A>T	p.D355V	Tubby domain	LCA	[34]
TULP1	c.1087G>A	p.G363R	Tubby domain	CRD	[40]
TULP1	c.1081C>T	p.R361*	Tubby domain	LCA	[41]
TULP1	c.1102G>T	p.G368W	Tubby domain	LCA	[26]
TULP1	c.1112+2T>C	–	Tubby domain	RP	[42]
TULP1	c.1113–2A>C	–	Tubby domain	LCA	[34]
TULP1	c.1138A>G	p.T380A	Tubby domain	LCA, RP	[43, 45, 46]
TULP1	c.1145T>C	p.F382S	Tubby domain	RP	[47]
TULP1	c.1198C>T	p.R400W	Tubby domain	LCA, RP, CRD	[26, 48, 49]
TULP1	c.1199G>A	p.A400Q	Tubby domain	RP	[50]
TULP1	c.1204G>T	p.E402*	Tubby domain	LCA	[26]
TULP1	c.1224+4A>G	–	Tubby domain	RP	[29]
TULP1	c.1246C > T	p.R416C	Tubby domain	RP	[25]
TULP1	c.1255C>T	p.R419W	Tubby domain	RP	This study
TULP1	c.1258C>A	p.R420S	Tubby domain	RCD	[51]
TULP1	c.1259G>C	p.R420P	Tubby domain	RP	[23]
TULP1	c.1318C>T	p.R440*	Tubby domain	LCA	[31]
TULP1	c.1349G>A	p.W450*	Tubby domain	LCA	[27]
TULP1	c.1376T>A	p.I459K	Tubby domain	RP	[23, 24]
TULP1	c.1376T>C	p.I459T	Tubby domain	RP	[42]
TULP1	c.1376_1377delTA	p.I459Rfs*12	Tubby domain	LCA	[34]
TULP1	c.1381C>G	p.L461V	Tubby domain	LCA, RP	[33]
TULP1	c.1444C > T	p.R482W	Tubby domain	RP	[44, 48]
TULP1	c.1445G>A	p.A482Q	Tubby domain	RP	[46]
TULP1	c.1466A>G	p.K489R	Tubby domain	RP	[29, 43, 52, 57]
TULP1	c.1472T>C	p.F491L	Tubby domain	RP	[23]
TULP1	c.1495+1G>A	–	Tubby domain	RP	[24]
TULP1	c.1495+2_1495+3insT	–	Tubby domain	RP	[53]
TULP1	c.1495+4A>C	–	Tubby domain	RP	[57]
TULP1	c.1496−6C>A	–	Tubby domain	RP	[23, 29]
TULP1	c.1511_1521del	p.L504fs*140	Tubby domain	RP	[44]
TULP1	c.1518C>A	p.F506L	Tubby domain	LCA	[31]
TULP1	c.1561C>T	p.P521S	Tubby domain	RP	[57]
TULP1	c.1582_1587dup	p.F528_A529dup	Tubby domain	LCA, RP	[54]
TULP1	c.1604T>C	p.F535S	Tubby domain	LCA	[55]

CRD cone-rod dystrophy, RP retinitis pigmentosa, EORD early-onset retinal dystrophy, BBS Bardet–Biedl syndrome, LCA Leber congenital amaurosis