Table 4. Summary of variants in exons of GNAI3 with likely functional effects in patients diagnosed with ocular albinism.
| Patient | Chr. 1 Position | Ref | Alt | Exon | Type of Variant+ | AA Change |
|---|---|---|---|---|---|---|
| 2 | 109548803 | A | - | 1 | frameshift deletion | E28fs |
| 3 | 109579206 | T | G | 4 | Non-synonymous SNV | D102E |
| 7 | 109586263 | A | T | 6 | Non-synonymous SNV | H213L |
| 16 | 109579226 | T | G | 4 | Non-synonymous SNV | V109G |
| 21 | 109579225 | G | T | 4 | Non-synonymous SNV | V109F |
| 109586292 | T | G | 6 | Non-synonymous SNV | F223V |
+ Variants are listed per patient and not per exon number.