| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.55491907del | CA203624 | MMP2 | c.1287del (p.Asn430ThrfsTer?) c.1137del (p.Asn380ThrfsTer?) c.1059del (p.Asn354ThrfsTer?) c.162del (p.Asn55ThrfsTer?) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.55491907G= | CA2223714687 | MMP2 | c.1287G= (p.Lys429=) c.1137G= (p.Lys379=) c.1059G= (p.Lys353=) c.162G= (p.Lys54=) | dbSNP dbSNP |