| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.240871391G>C | CA68178380 | AGXT | c.466G>C (p.Gly156Arg) n.486G>C n.203G>C | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 2 | g.240871391G>A | CA340448 | AGXT | c.466G>A (p.Gly156Arg) n.486G>A n.203G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.240871391G= | CA1339332098 | AGXT | c.466G= (p.Gly156=) n.486G= n.203G= | dbSNP |