| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.127428575G>A | CA114425 | PROC | c.1015G>A (p.Val339Met) c.339G>A c.1117G>A (p.Val373Met) c.1198G>A (p.Val400Met) c.1180G>A (p.Val394Met) c.1078G>A (p.Val360Met) n.1332-311C>T c.1258G>A (p.Val420Met) c.1360G>A (p.Val454Met) c.1300G>A (p.Val434Met) n.3607-311C>T n.4043-311C>T c.1183G>A (p.Val395Met) c.1201G>A (p.Val401Met) c.958G>A (p.Val320Met) c.991G>A (p.Val331Met) c.1009G>A (p.Val337Met) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 2 | g.127428575G= | CA1286884532 | PROC | c.1015G= (p.Val339=) c.339G= c.1117G= (p.Val373=) c.1198G= (p.Val400=) c.1180G= (p.Val394=) c.1078G= (p.Val360=) n.1332-311C= c.1258G= (p.Val420=) c.1360G= (p.Val454=) c.1300G= (p.Val434=) n.3607-311C= n.4043-311C= c.1183G= (p.Val395=) c.1201G= (p.Val401=) c.958G= (p.Val320=) c.991G= (p.Val331=) c.1009G= (p.Val337=) | dbSNP |