| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.33066684C>G | CA2256404263 | ASIC2 | c.987+22179G>C (n.987+22179G>C) c.834+22179G>C (n.834+22179G>C) n.392+22179G>C | dbSNP |
| 17 | g.33066684C>T | CA14447916 | ASIC2 | c.987+22179G>A (n.987+22179G>A) c.834+22179G>A (n.834+22179G>A) n.392+22179G>A | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |