Table 4.
Novel truncating and nonsense EYS mutations found in this study.
| Mutation | DNA variant | Protein variant | Diagnosis |
|---|---|---|---|
| 1 | c.179delT | p.L60W fs*3 | RP |
| 2 | IVS27-3_4insT | — | RP |
| 3 | IVS38-1G>T | — | RP |
| 4 | c.2380C>T | p.R794* | RP |
| 5 | c.4557delA | p.A1520P fs*30 | RP |
| 6 | c.5202_5203delGT | p.F1735Q fs*6 | RP |
| 7 | c.6869_6896delCCATATTCCTGCAAATGTTCAAATTGATAAGAAAG | p.P2290Q fs*12 | RP |
| 8 | c.6897_6902dupAGGTCC | p.G2300_P2301dup | RP |
| 9 | c.6976C>T | p.R2326* | RP |
| 10 | c.7836_7837delTC | p.P2613L fs*18 | RP |
| 11 | c.8196_8200delCTTTC | p.F2733C fs*33 | RP |
| 12 | c.8439_8442dupTGCA | p.E2815C fs*19 | RP |
| 13 | c.8921C>A | p.S2974* | RP |
*Truncating and nonsense variants.