| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.44251583A>G | CA127404 | SLC4A1 | c.2317T>C (p.Ser773Pro) c.1219T>C (p.Ser407Pro) c.2122T>C (p.Ser708Pro) c.2227T>C (p.Ser743Pro) c.*27T>C (n.*27T>C) | ClinVar dbSNP gnomAD v4 |
| 17 | g.44251583A= | CA2261306874 | SLC4A1 | c.2317T= (p.Ser773=) c.1219T= (p.Ser407=) c.2122T= (p.Ser708=) c.2227T= (p.Ser743=) c.*27T= (n.*27T=) | dbSNP |