| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.44253361T>C | CA290927445 | SLC4A1 | c.2068A>G (p.Ser690Gly) c.970A>G (p.Ser324Gly) c.1873A>G (p.Ser625Gly) c.1978A>G (p.Ser660Gly) | dbSNP gnomAD v4 |
| 17 | g.44253361T= | CA2261307725 | SLC4A1 | c.2068A= (p.Ser690=) c.970A= (p.Ser324=) c.1873A= (p.Ser625=) c.1978A= (p.Ser660=) | dbSNP |
| 17 | g.44253361T>A | CA399781883 | SLC4A1 | c.2068A>T (p.Ser690Cys) c.970A>T (p.Ser324Cys) c.1873A>T (p.Ser625Cys) c.1978A>T (p.Ser660Cys) | dbSNP |