| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.44255707C>T | CA127387 | SLC4A1 | c.1766G>A (p.Arg589His) c.778-486G>A (n.778-486G>A) c.1571G>A (p.Arg524His) | ClinVar dbSNP |
| 17 | g.44255707C= | CA2261308784 | SLC4A1 | c.1766G= (p.Arg589=) c.778-486G= (n.778-486G=) c.1571G= (p.Arg524=) | dbSNP |