| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.48045642G>C | CA500495773 | COPZ2 | n.883+1567C>G n.878+1567C>G | dbSNP |
| 17 | g.48045642G>A | CA14436380 | COPZ2 | n.883+1567C>T n.878+1567C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.48045642G>C | CA500495773 | COPZ2 | n.883+1567C>G n.878+1567C>G | dbSNP |
| 17 | g.48045642G>A | CA14436380 | COPZ2 | n.883+1567C>T n.878+1567C>T | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |