| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.44253369A>G | CA215057 | SLC4A1 | c.2060T>C (p.Leu687Pro) c.962T>C (p.Leu321Pro) c.1865T>C (p.Leu622Pro) c.1970T>C (p.Leu657Pro) | ClinVar dbSNP gnomAD v4 |
| 17 | g.44253369A= | CA2261307728 | SLC4A1 | c.2060T= (p.Leu687=) c.962T= (p.Leu321=) c.1865T= (p.Leu622=) c.1970T= (p.Leu657=) | dbSNP |