Table 3. Summary of SNVs in the GNAI3 5' UTR of ocular albino patients.
| Patient | Chr. 1 Position | Ref | Alt | Variant Detail + | SNP ID |
|---|---|---|---|---|---|
| 2 | 109548649 | C | T | c.-72C>T* | rs3737182 |
| 4 | 109548647 | T | G | c.-74T>G* | |
| 9 | 109548687 | A | G | c.-34A>G* | |
| 10 | 109548660 | C | T | c.-61C>T* | rs1279195 |
| 109548717 | C | T | c.-4C>T* | rs3814308 | |
| 13 | 109548649 | C | T | c.-72C>T | rs3737182 |
| 15 | 109548665 | C | A | c.-56C>A* | rs144431312 |
| 20 | 109548717 | C | T | c.-4C>T | rs3814308 |
| 22 | 109548649 | C | T | c.-72C>T | rs3737182 |
| 25 | 109548660 | C | T | c.-61C>T | rs1279195 |
| 26 | 109548660 | C | T | c.-61C>T | rs1279195 |
| 109548717 | C | T | c.-4C>T | rs3814308 |
+ Variants are listed per patient and not following the 5’ to 3’ order in which they appear in the 5’ UTR.
* identifies the 6 HaloPlex variants in the 5’UTR of GNAI3. Some of these variants are present in more than one patient.