Table 2 of Kabir, Mol Vis 2016; 22:610-625.
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] |