| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.44253238A>G | CA215058 | SLC4A1 | c.2191T>C (p.Ser731Pro) c.1093T>C (p.Ser365Pro) c.1996T>C (p.Ser666Pro) c.2101T>C (p.Ser701Pro) | ClinVar dbSNP |
| 17 | g.44253238A= | CA2261307673 | SLC4A1 | c.2191T= (p.Ser731=) c.1093T= (p.Ser365=) c.1996T= (p.Ser666=) c.2101T= (p.Ser701=) | dbSNP |