| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.44251241G>T | CA127396 | SLC4A1 | c.2573C>A (p.Ala858Asp) c.1475C>A (p.Ala492Asp) c.2378C>A (p.Ala793Asp) c.2483C>A (p.Ala828Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44251241G= | CA2261306728 | SLC4A1 | c.2573C= (p.Ala858=) c.1475C= (p.Ala492=) c.2378C= (p.Ala793=) c.2483C= (p.Ala828=) | dbSNP |