| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.240868867T>C | CA275613 | AGXT | c.2T>C (p.Met1Thr) n.22T>C n.405+1366A>G | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.240868867T>A | CA351312462 | AGXT | c.2T>A (p.Met1Lys) n.22T>A n.405+1366A>T | dbSNP gnomAD v4 |
| 2 | g.240868867T= | CA1339330731 | AGXT | c.2T= (p.Met1=) n.22T= n.405+1366A= | dbSNP |