Table 2.
Intronic variants found in the study.
| NO. | Gene | Disease/ Inheritance | Zyg | Genomic Positions (hg38) | cDNA variant | First Report Study |
|---|---|---|---|---|---|---|
| 1 | EYS |
RP/ AR |
Het | chr6:63964152 T > C | c.7055+20231 A > G | This study |
| 2 | EYS |
RP/ AR |
Het | chr6:65226028 A > C | c.2023+69835 T > G | This study |
| 3 | HGSNAT |
RP/ AR |
Het | chr8:43146937 A > G | c.119-11 A > G | This study |
| 4 | MYO7A |
Usher syndrome / AR |
Hom | chr11:77214594 C > G | c.6559-13 C > G | This study |
| 5 | RIMS1 |
CRD/ AD |
Het | chr6:72106499 T > A | c.471+6513 T > A | This study |
Zyg zygosity, Het heterozygous, Hom homozygous, chr chromosome.