| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.127428818G>T | CA55351436 | PROC | c.1258G>T (p.Val420Leu) c.582G>T c.1360G>T (p.Val454Leu) c.1441G>T (p.Val481Leu) c.1423G>T (p.Val475Leu) c.1321G>T (p.Val441Leu) n.1332-554C>A c.1501G>T (p.Val501Leu) c.1603G>T (p.Val535Leu) c.1543G>T (p.Val515Leu) n.3607-554C>A n.4043-554C>A c.1426G>T (p.Val476Leu) c.1444G>T (p.Val482Leu) c.1201G>T (p.Val401Leu) c.1234G>T (p.Val412Leu) c.1252G>T (p.Val418Leu) | dbSNP gnomAD v2 |
| 2 | g.127428818G= | CA1286884665 | PROC | c.1258G= (p.Val420=) c.582G= c.1360G= (p.Val454=) c.1441G= (p.Val481=) c.1423G= (p.Val475=) c.1321G= (p.Val441=) n.1332-554C= c.1501G= (p.Val501=) c.1603G= (p.Val535=) c.1543G= (p.Val515=) n.3607-554C= n.4043-554C= c.1426G= (p.Val476=) c.1444G= (p.Val482=) c.1201G= (p.Val401=) c.1234G= (p.Val412=) c.1252G= (p.Val418=) | dbSNP |