| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.160731208G>A | CA4087772 | PLG | c.367G>A (p.Asp123Asn) c.1465G>A (p.Asp489Asn) c.1414G>A (p.Asp472Asn) n.412G>A n.469G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.160731208G>C | CA366363849 | PLG | c.367G>C (p.Asp123His) c.1465G>C (p.Asp489His) c.1414G>C (p.Asp472His) n.412G>C n.469G>C | dbSNP gnomAD v4 |
| 6 | g.160731208G= | CA1630834635 | PLG | c.367G= (p.Asp123=) c.1465G= (p.Asp489=) c.1414G= (p.Asp472=) n.412G= n.469G= | dbSNP |