| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.55493201G>A | CA8060423 | MMP2 | c.1380G>A (p.Thr460=) c.1230G>A (p.Thr410=) c.1152G>A (p.Thr384=) c.255G>A (p.Thr85=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.55493201G>C | CA8060424 | MMP2 | c.1380G>C (p.Thr460=) c.1230G>C (p.Thr410=) c.1152G>C (p.Thr384=) c.255G>C (p.Thr85=) | dbSNP ExAC gnomAD v2 gnomAD v4 |