| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.44257538C>T | CA127406 | SLC4A1 | c.1438G>A (p.Glu480Lys) c.777+1724G>A (n.777+1724G>A) n.1577G>A c.1243G>A (p.Glu415Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 17 | g.44257538C= | CA2261309580 | SLC4A1 | c.1438G= (p.Glu480=) c.777+1724G= (n.777+1724G=) n.1577G= c.1243G= (p.Glu415=) | dbSNP |