Table 2. List of pathogenic mutations identified in RP1.

No.	Nucleotide change	Amino Acid Change	Coding Exon	Inheritance	Reference
1	c.2029C>T	p.Arg677X	4	adRP	[7,86,87]
2	c.2232T>A	p.Cys744X	4	adRP	[7]
3	c.2303delC	p.Lys769ArgfsX6	4	adRP	[7]
4	c.2287_2290del	p.Asn763LeufsX11	4	adRP	[90]
5	c.2035C>T in cis with c.5377C>T	p.Gln679X in cis with p.Pro1793Ser	4	adRP	[90]
6	c.2280_2284del	p.Leu762TyrfsX17	4	adRP	[7]
7	c.1498_1499insGT	p.Met500SerfsX33	4	adRP	[88]
8	c.2171_2186del	p.Gly724GlufsX9	4	adRP	[88]
9	c.2594_2596del	p.Thr865_Leu866delinsIle	4	adRP	[88]
10	c.2613dupA	p.Arg872ThrfsX2	4	adRP	[88]
11	c.2284_2289del	p.Leu762_Asn763del	4	adRP	[88]
12	c.2206_2207insT	p.Thr736IlefsX4	4	adRP	[88]
13	c.2239delA	p.Ser747ValfsX16	4	adRP	[87]
14	c. 3157delT	p.Tyr1053ThrfsX4	4	adRP	[87]
15	c.2185delG	p.Glu729LysfsX9	4	adRP	[90]
16	c.2167G>T	p.Gly723X	4	adRP	[89,90]
17	c.2332A>T	p.Lys778X incomplete penetrance	4	adRP	[91]
18	c.1118C>T	p.Thr373Ile	4	arRP	[90,93]
19	c.2336_2337delCT	p.Ser779X	4	adRP	[92]
20	c.1606insTGAA	p.Glu488X	4	arRP	[48]
21	c.4703delA	p.Arg1519fsX1521	4	arRP	[48]
22	c.5400delA	p.Asn1751fsX1754	4	arRP	[48]
23	c.2005G>A	p.Ala669Thr	4	Sporadic case	[93]
24	c.2056C>T	p.Gln686X	4	adRP	[95]
25	c.2115delA	p.Gly706ValfsX7	4	adRP	[95]
26	c.2164_2165delinsG	p.Lys722GlufsX16	4	adRP	[95]
27	c.2590_2599del	p.Ile864LysfsX11 incomplete penetrance	4	adRP	[96]
28	c.2951A>G	p.Asp984Gly	4	adRP	[94,97,102]
29	c.2732C>A	p.Ser911X incomplete penetrance	4	adRP	[96]
30	c.2342C>G	p.Ser781*	4	adRP	[111]
31	c.606C>A	p.Asp202Glu	2	arRP	[98]
32	c.662delC	p.Ala221GlyfsX43	3	arRP	[98]
33	c.2847delT	p.Asn949LysfsX32	4	arRP	[99]
34	c.5_6delGT	p.Ser2ArgfsX16	2	adRP	[101]
35	c.4108A>G	p.Lys1370Glu	4	adRP	[100]
36	c.4941dupT	p.Pro1648SerfsX13	4	adRP	[101]
37	c.4955G>T	p.Arg1652Leu	4	adRP	[100]
38	c.2025delA	p.Lys675AsnfsX7	4	adRP	[112]
39	c.2169delA	p.Ile725TyrfsX13	4	adRP	[112]
40	c.2275A>T	p.Arg759X	4	adRP	[112]
41	c.1625C>G	p.Ser542X	4	arRP	[105,107]
42	c.33396G>A	p.Trp1131X	4	arRP	[104]
43	c.3418delGG	p.Gly1140LysfsX4	4	arRP	[109]
44	c.3428delA	p.Asn1143IlefsX25	4	arRP	[104]
45	c.3677_3678dupA	p.Glu1227MetfsX29	4	arRP	[104]
46	c.4552A>T	p.Lys1518X	4	arRP	[104]
47	c.1012C>T	p.Arg338X	4	arRP	[103]
48	c.2180_2181delinsAA	p.Cys727X	4	adRP	[110]
49	c.2181T>A	p.Cys727X	4	adRP	[110]
50	c.2194C>T	p.Gln732X	4	adRP	[110]
51	c.5173C>T	p.Gln1725X	4	arRP	[107]
52	c.4327C>T	p.Arg1443Trp	4	adRP	[106]
53	c.4804C>T	p.Gln1602X	4	arRP	[107]
54	c.2585C>G	p.Ser862X	4	adRP	[110]
55	c.1186C>T	p.Arg396X	4	arRP	[109]

adRP: autosomal dominant RP; arRP: autosomal recessive RP.