| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.55489793T>G | CA281398634 | MMP2 | c.1149T>G (p.Asp383Glu) c.999T>G (p.Asp333Glu) c.921T>G (p.Asp307Glu) c.55+1077T>G (n.55+1077T>G) | dbSNP |
| 16 | g.55489793T>C | CA8060319 | MMP2 | c.1149T>C (p.Asp383=) c.999T>C (p.Asp333=) c.921T>C (p.Asp307=) c.55+1077T>C (n.55+1077T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.55489793T>A | CA281398632 | MMP2 | c.1149T>A (p.Asp383Glu) c.999T>A (p.Asp333Glu) c.921T>A (p.Asp307Glu) c.55+1077T>A (n.55+1077T>A) | dbSNP |