| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.44251211G>A | CA127410 | SLC4A1 | c.2603C>T (p.Pro868Leu) c.1505C>T (p.Pro502Leu) c.2408C>T (p.Pro803Leu) c.2513C>T (p.Pro838Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.44251211G= | CA2261306715 | SLC4A1 | c.2603C= (p.Pro868=) c.1505C= (p.Pro502=) c.2408C= (p.Pro803=) c.2513C= (p.Pro838=) | dbSNP |