| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.55491830G>A | CA127082 | MMP2 | c.1210G>A (p.Glu404Lys) c.1060G>A (p.Glu354Lys) c.982G>A (p.Glu328Lys) c.85G>A (p.Glu29Lys) | ClinVar dbSNP gnomAD v4 |
| 16 | g.55491830G= | CA2223714656 | MMP2 | c.1210G= (p.Glu404=) c.1060G= (p.Glu354=) c.982G= (p.Glu328=) c.85G= (p.Glu29=) | dbSNP |