| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.160752240G>A | CA123277 | PLG | c.1204G>A (p.Gly402Arg) c.2302G>A (p.Gly768Arg) c.*2271G>A (n.*2271G>A) c.2251G>A (p.Gly751Arg) n.225G>A n.552G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.160752240G= | CA1677212368 | PLG | c.1204G= (p.Gly402=) c.2302G= (p.Gly768=) c.*2271G= (n.*2271G=) c.2251G= (p.Gly751=) n.225G= n.552G= | dbSNP |