| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.44258512G>A | CA127383 | SLC4A1 | c.988C>T (p.Gln330Ter) c.777+750C>T (n.777+750C>T) n.1127C>T c.793C>T (p.Gln265Ter) | ClinVar dbSNP |
| 17 | g.44258512G= | CA2261309994 | SLC4A1 | c.988C= (p.Gln330=) c.777+750C= (n.777+750C=) n.1127C= c.793C= (p.Gln265=) | dbSNP |