Table 2 of Maia-Lopes, Mol Vis 2009; 15:584-591.
Exon | Nucleotide Change | Effect | STGD Families | Frequency | References |
---|---|---|---|---|---|
IVS3 | c.302+20C>T | - | 12 | 4.8% | [6] |
IVS3 | c.302+26A>G | - | 7,12,13,14 | 1.91% | [6] |
6 | c.635G>A | p.Arg212His | 13,19 | 9.5% | [15] |
IVS7 | c.859+8T>C | - | 17 | 4.8% | Present study |
10 | c.1268A>G | p.His423Arg | 2,4,5,6,10,11,12,13,14,18,19 | 53% | [13] |
10 | c.1269C>T | p.His423His | 16 | 4.8% | [13] |
IVS10 | c.1356+5delG | SPLICE | 1,7,11,15,20 | 23.8% | [13] |
IVS14 | c.2161+47T>C | − | 18 | 4.8% | Present study |
19 | c.2828G>A | p.Arg943Gln | 3,10,18,19 | 19.1% | [5] |
IVS19 | c.2919+34C>T | - | 12 | 4.8% | Present study |
20 | c.2964T>C | p.Leu988Leu | 12 | 4.8% | [6] |
IVS22 | c.3326–19G>A | - | 2 | 4.8% | Present study |
IVS33 | c.4773+48C>T | Splice | 1,2,3,5,6,8,9,10,12,13,14,16,17,18,19,20 | 76.2% | [13] |
40 | c.5603A>T | p.Asn1868Ile | 4,10,17 | 14.3% | [6] |
40 | c.5682G>C | p.Leu1894Leu | 1,2,4,5,8,10,12,13,17,18 | 47.6% | [6] |
41 | c.5814A>G | p.Leu1938Leu | 1,2,5,8,10,12,13,18 | 3.81% | [6] |
42 | c.5843CA>TG/c.5843C>T | p.Pro1948Leu | 11 | 4.8% | [14] |
42 | c.5844A>G | p.Pro1948Pro | 1,2,5,8,10,12,13 | 33.3% | [14] |
44 | c.6069C>T | p.Ile2023Ile | 9,12,14,19 | 19.1% | [6] |
45 | c.6249C>T | p.Ile2083Ile | 9,12,14,19 | 19.1% | [5] |
46 | c.6285T>C | p.Asp2095Asp | 1,2,8,9,10,12,14,19 | 38.1% | [14] |
IVS48 | c.6769+21C>T | SPLICE | 1,10 | 9.5% | [6] |
49 | c.6764G>T | p.Ser2255Ile | 1,9,14,19 | 19.1% | [5] |