| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 11 | g.102842889T>G | CA382235174 | MMP3 | c.133A>C (p.Lys45Gln) c.104A>C (p.Gln35Pro) | dbSNP |
| 11 | g.102842889T>C | CA6251238 | MMP3 | c.133A>G (p.Lys45Glu) c.104A>G (p.Gln35Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 11 | g.102842889T>A | CA382235173 | MMP3 | c.133A>T (p.Lys45Ter) c.104A>T (p.Gln35Leu) | dbSNP gnomAD v4 |