Table 6. Summary of deletions and insertions in the first 2109 bp of the GNAI3 non-coding exon 9/3’ UTR in patients affected with ocular albinism.
| Patient | Chr. 1 Position | Ref | Alt | GNAI3 Gene | Variant Detail+ | SNP ID |
|---|---|---|---|---|---|---|
| 2 | 109592643 | T | - | NC-EX-9 | uc001dxz.3:c.*321delT* | |
| 3 | 109594256 | G | - | NC-EX-9 | uc001dxz.3:c.*1934delG* | |
| 6 | 109593149 | A | - | NC-EX-9 | uc001dxz.3:c.*827delA* | |
| 7 | 109594646 | A | - | NC-EX-9 | uc001dxz.3:c.*2324delA* | |
| 10 | 109594316 | - | A | NC-EX-9 | uc001dxz.3:c.*1994_*1995insA* | |
| 11 | 109593701 | AT | - | NC-EX-9 | uc001dxz.3:c.*1379_*1380delAT* | rs3833901 |
| 109593976 | A | - | NC-EX-9 | uc001dxz.3:c.*1654delA* | ||
| 12 | 109593825 | G | - | NC-EX-9 | uc001dxz.3:c.*1503delG* | |
| 13 | 109593700 | GA | - | NC-EX-9 | uc001dxz.3:c.*1378_*1379delGA* | rs3833901 |
| 109593701 | AT | - | NC-EX-9 | uc001dxz.3:c.*1379_*1380delAT | ||
| 109593976 | A | - | NC-EX-9 | uc001dxz.3:c.*1654delA | ||
| 14 | 109593462 | T | - | NC-EX-9 | uc001dxz.3:c.*1140delT* | |
| 17 | 109593493 | A | - | NC-EX-9 | uc001dxz.3:c.*1171delA* | |
| 109594439 | T | - | NC-EX-9 | uc001dxz.3:c.*2117delT* | ||
| 18 | 109594316 | - | A | NC-EX-9 | uc001dxz.3:c.*1994_*1995insA | rs144920545 |
| 19 | 109592643 | T | - | NC-EX-9 | uc001dxz.3:c.*321delT | |
| 22 | 109593700 | GA | - | NC-EX-9 | uc001dxz.3:c.*1378_*1379delGA | |
| 109593701 | AT | - | NC-EX-9 | uc001dxz.3:c.*1379_*1380delAT | rs3833901 | |
| 24 | 109593682 | T | - | NC-EX-9 | uc001dxz.3:c.*1360delT* | |
| 109593701 | AT | - | NC-EX-9 | uc001dxz.3:c.*1379_*1380delAT | rs3833901 | |
| 25 | 109592649 | C | - | NC-EX-9 | uc001dxz.3:c.*328delC* | |
| 26 | 109594316 | - | A | NC-EX-9 | uc001dxz.3:c.*1994_*1995insA | rs144920545 |
+ Variants are listed per patient and not following the 5’ to 3’ order in which they appear in exon 9/3’ UTR.
* represents the 14 Indels in 2,109 bp of the non-coding exon 9/3’ UTR identified with HaloPlex/NGS analyses.