| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.240869248G>C | CA275654 | AGXT | c.244G>C (p.Gly82Arg) n.264G>C n.405+985C>G | ClinVar dbSNP gnomAD v4 |
| 2 | g.240869248G>A | CA351313532 | AGXT | c.244G>A (p.Gly82Arg) n.264G>A n.405+985C>T | ClinVar dbSNP |
| 2 | g.240869248G= | CA1339330955 | AGXT | c.244G= (p.Gly82=) n.264G= n.405+985C= | dbSNP |