| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.55485677C>G | CA395933889 | MMP2 | c.732C>G (p.Tyr244Ter) c.582C>G (p.Tyr194Ter) c.504C>G (p.Tyr168Ter) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.55485677C>A | CA127080 | MMP2 | c.732C>A (p.Tyr244Ter) c.582C>A (p.Tyr194Ter) c.504C>A (p.Tyr168Ter) | ClinVar dbSNP |
| 16 | g.55485677C= | CA2223711653 | MMP2 | c.732C= (p.Tyr244=) c.582C= (p.Tyr194=) c.504C= (p.Tyr168=) | dbSNP |