| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.160731229G>A | CA366363889 | PLG | c.388G>A (p.Glu130Lys) c.1486G>A (p.Glu496Lys) c.1435G>A (p.Glu479Lys) n.433G>A n.490G>A | dbSNP gnomAD v3 gnomAD v4 |
| 6 | g.160731229G>T | CA123274 | PLG | c.388G>T (p.Glu130Ter) c.1486G>T (p.Glu496Ter) c.1435G>T (p.Glu479Ter) n.433G>T n.490G>T | ClinVar dbSNP |