| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 17 | g.1754359G>A | CA8274435 | SERPINF2 | c.1301G>A (p.Arg434Lys) c.1109G>A (p.Arg370Lys) c.1406G>A (p.Arg469Lys) c.1313G>A (p.Arg438Lys) c.1349G>A (p.Arg450Lys) c.1220G>A (p.Arg407Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 17 | g.1754359G= | CA2243019150 | SERPINF2 | c.1301G= (p.Arg434=) c.1109G= (p.Arg370=) c.1406G= (p.Arg469=) c.1313G= (p.Arg438=) c.1349G= (p.Arg450=) c.1220G= (p.Arg407=) | dbSNP |