| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.44255259G>A | CA127389 | SLC4A1 | c.1838C>T (p.Ser613Phe) c.778-38C>T (n.778-38C>T) c.1643C>T (p.Ser548Phe) c.1800+414C>T (n.1800+414C>T) | ClinVar dbSNP |
| 17 | g.44255259G= | CA2261308584 | SLC4A1 | c.1838C= (p.Ser613=) c.778-38C= (n.778-38C=) c.1643C= (p.Ser548=) c.1800+414C= (n.1800+414C=) | dbSNP |