| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.44251305T>C | CA127395 | SLC4A1 | c.2509A>G (p.Thr837Ala) c.1411A>G (p.Thr471Ala) c.2314A>G (p.Thr772Ala) c.2419A>G (p.Thr807Ala) | ClinVar dbSNP |
| 17 | g.44251305T= | CA2261306754 | SLC4A1 | c.2509A= (p.Thr837=) c.1411A= (p.Thr471=) c.2314A= (p.Thr772=) c.2419A= (p.Thr807=) | dbSNP |