| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.55485307G>A | CA235949 | MMP2 | c.538G>A (p.Asp180Asn) c.388G>A (p.Asp130Asn) c.310G>A (p.Asp104Asn) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.55485307G= | CA2223711492 | MMP2 | c.538G= (p.Asp180=) c.388G= (p.Asp130=) c.310G= (p.Asp104=) | dbSNP |
| 16 | g.55485307G>T | CA395932944 | MMP2 | c.538G>T (p.Asp180Tyr) c.388G>T (p.Asp130Tyr) c.310G>T (p.Asp104Tyr) | dbSNP gnomAD v4 |