| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.240869202C>T | CA2209033 | AGXT | c.198C>T (p.Tyr66=) n.218C>T n.405+1031G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.240869202C>A | CA351313417 | AGXT | c.198C>A (p.Tyr66Ter) n.218C>A n.405+1031G>T | ClinVar dbSNP |
| 2 | g.240869202C>G | CA253542 | AGXT | c.198C>G (p.Tyr66Ter) n.218C>G n.405+1031G>C | ClinVar dbSNP gnomAD v2 gnomAD v4 |