| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.44251588C>T | CA127382 | SLC4A1 | c.2312G>A (p.Gly771Asp) c.1214G>A (p.Gly405Asp) c.2117G>A (p.Gly706Asp) c.2222G>A (p.Gly741Asp) c.*22G>A (n.*22G>A) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 17 | g.44251588C>A | CA399781304 | SLC4A1 | c.2312G>T (p.Gly771Val) c.1214G>T (p.Gly405Val) c.2117G>T (p.Gly706Val) c.2222G>T (p.Gly741Val) c.*22G>T (n.*22G>T) | ClinVar dbSNP |