| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.240869287G>A | CA275659 | AGXT | c.283G>A (p.Glu95Lys) n.303G>A n.405+946C>T | ClinVar dbSNP |
| 2 | g.240869287G= | CA1339330978 | AGXT | c.283G= (p.Glu95=) n.303G= n.405+946C= | dbSNP |
| 2 | g.240869287G>T | CA351313706 | AGXT | c.283G>T (p.Glu95Ter) n.303G>T n.405+946C>A | ClinVar dbSNP |