Table 6 of
Zou, Mol Vis 2021; 27:1-16.
Table 6. Low-frequency variants identified by targeted NGS.
| Sample ID | cDNA change | Mutant frequency by targeted NGS | Mutant frequency by deep NGS | Sanger sequencing |
|---|---|---|---|---|
| 18C014512 | c.1215+1G>A | 173/33(16%) | 11,280/1485(13%) | - |
| 19C149227 | c.2284C>T | 598/21(3.39%) | 48,738/1628(3%) | - |
| 18C044455 | c.1121_1122delCA | 140/33(19%) | / | + |
| 17C060094 | c.2285_2286delAG | 405/55(12%) | / | + |
| CA1407B | c.227T>G | 412/65(14%) | / | + |
| CA1284B | c.1654C>T | 107/16(13%) | / | + |
| CA1309B | c.1666C>T | 584/122(17%) | / | + |
| 18C014502 | c.1432dupA | 111/18(14%) | / | + |