Molecular Vision: Liu, Mol Vis 2025; 31:282-295. Table 2

Table 2. The RPGR mutations are downloaded from LOVD and a large cohort study from Chinese suspected RP patients.

Variant type	Gene	Protein	Classification	Reference
Delins	c.ORF15+483_484delGA	p.ORF15+E161fs	P	Li Y et al.
	c.ORF15+694_708del15	p.ORF15+N231_P235del	P	Yang Z et al.
	c.ORF15+1343_1344delGG		P
	c.1088_1089delinsA	p.Val363Aspfs*18	P	Wang X et al.
	c.197A>G	p.Gln66Arg	P
Nonsynonymous	c.284G > A	p.Glu95Glu	LP	Huang L et al.
Frameshift	c.1477delC	p.Gly494Glufs*7	LP
	c.2236_2237delCT	p.Glu746Argfs*23	LP
	c.2333delA	p.E778Pfs*83	P	Zhang Q et al.
	c.G494A	p.G165D	LP
Ins	c.3240del		P	Sun W et al.
	c.3361del		P
	c.139_140insTCTGC		LP
	c.1282C>G		LP
	c.1967A>T		LP
	c.2135A>G		LP
	c.2200G>A		LP
	c.2245G>T	p.Glu749*	P	Ge Z et al.
	c.3039_3040del	p.Glu1014Glyfs*64	P
	c.1495_1496insA	p.Ile499Asnfs*14	P
	c.2377C>T	p.Q793X	LP	Huang XF et al.
	c.1202_1206del5	p.V401Afs*50	LP	Wang J et al.
	c.92G>A	p.W31*
	c.905G>C	p.C302S	LP
	c.1709C>T	p.T570M
	c.153C>T	p.T51T
	ORF15+650_653delAGAG	p.Thr801ThrfsX813	LP
	c.2218G>T	p.Glu740Ter	P
	c.3092del	p.Glu1031GlyfsTer58	P
Splice	c.310+3A>G		P
	c.29–2A>T		P	Wang L et al.
	c.1754–3C>G		LP
	c.2695G>T	p.Glu899Ter	P
	c.1399C>T	p.Gln467Ter	P
Ins	c.2405_2406del	p.Glu802GlyfsTer32	P
	c.2964_2965del	p.Glu989GlyfsTer89	P
	c.373G>T	p.Glu125Ter	P
	c.2038_2041delGACA	p.Asp680Argfs*16	P	Chen X et al.
	c.248–1G>T		P	Wang X et al.
	c.1377_1378del		P
	c.2158C>T		P
	c.2359G>T		P
	c.1375_1376del		P
	c.223A>G		LP	Song J et al.
Subsititution	c.352G>A	p.Gln118*	P	Wang P et al.
	c.473del	p.Asp158Valfs*17	P
	c.532dup	p.Ser178Lysfs*2	P
	c.494G>T	p.Gly165Val	P	Xu K et al.
Splice	c.1573–2A>G		P
	c.778+2T>C		P
	c.2592_2593insA	p.Gly865Argfs*214	LP	Chen ZJ et al.
Subsititution	c.2032G>T	p.Glu678*	LP
	c.2006G>A	p.Trp669*	LP	Dan H et al.
	c.905G > A	p.Cys302Tyr	LP	Sun Y et al.
	c.1694_1695delAA	p.Gln565Argfs*17	P	Zhang X et al.
	c.284G>A	p.Gly95Glu	P	Xiao T et al.
	c.904T>C	p.Cys302Arg	P
	c.3160G>T	p.Glu1054Ter	P	Chen PJ et al.
	c.614dupT	p.Thr206AsnfsTer5	P
	c.2425G>T	p.Glu809Ter	P
	c.1991C>G	p.Ser664Ter	LP
	c.646G>T	p.Glu216Ter	LP	Zhu J et al.
	c.2894del	p.Glu965Glyfs*124	P
	c.2777_2778del	p.Glu926Glyfs*152	P
Delins	c.2293delG	p.Glu765Argfs*50	LP
Missense	c.818A>G	p.Gln273Arg	LP
	c.469+2T>C			Gao FJ et al.
	c.2321_2330del	p.Glu774Glyfs38
	c.154G>A	p.Gly52Arg
	c.2730_2731delGG	p.Glu911Glyfs*167
	c.1041delG	p.Leu347LeufsX4
	c.1681C>T	p.Gln561Ter
	c.2899_2902delGAAG
	c.3220G>A	p.Glu1074Lys
	c.1207C>T	p.Gln403Ter
	c.2323_2324delAG	p.Arg775Glufs59
	c.1115delC	p.Ala372Glufs9
	c.2007G>A	p.Trp669Ter
	c.380_383delGAAA	p.Arg127Thrfs5
	c.2293G>T	p.Glu765Ter
	c.785C>G	p.Ala262Gly