| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.44250125G>T | CA10649387 | SLC4A1 | c.*333C>A (n.*333C>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44250125G>C | CA2581309659 | SLC4A1 | c.*333C>G (n.*333C>G) | dbSNP gnomAD v4 |
| 17 | g.44250125G>A | CA2581309658 | SLC4A1 | c.*333C>T (n.*333C>T) | dbSNP gnomAD v4 |
| 17 | g.44250125G= | CA2261306197 | SLC4A1 | c.*333C= (n.*333C=) | dbSNP |