| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.160738583G>A | CA123271 | PLG | c.801G>A (p.Trp267Ter) c.1899G>A (p.Trp633Ter) c.*1868G>A (n.*1868G>A) c.1848G>A (p.Trp616Ter) n.149G>A | ClinVar dbSNP |
| 6 | g.160738583G>C | CA4087901 | PLG | c.801G>C (p.Trp267Cys) c.1899G>C (p.Trp633Cys) c.*1868G>C (n.*1868G>C) c.1848G>C (p.Trp616Cys) n.149G>C | dbSNP ExAC gnomAD v2 gnomAD v4 |