| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.127428462C>T | CA114391 | PROC | c.902C>T (p.Ala301Val) c.226C>T c.1004C>T (p.Ala335Val) c.1085C>T (p.Ala362Val) c.1067C>T (p.Ala356Val) c.965C>T (p.Ala322Val) n.1332-198G>A c.1145C>T (p.Ala382Val) c.1247C>T (p.Ala416Val) c.1187C>T (p.Ala396Val) n.3607-198G>A n.4043-198G>A c.1070C>T (p.Ala357Val) c.1088C>T (p.Ala363Val) c.845C>T (p.Ala282Val) c.878C>T (p.Ala293Val) c.896C>T (p.Ala299Val) | ClinVar dbSNP gnomAD v4 |
| 2 | g.127428462C= | CA1286884484 | PROC | c.902C= (p.Ala301=) c.226C= c.1004C= (p.Ala335=) c.1085C= (p.Ala362=) c.1067C= (p.Ala356=) c.965C= (p.Ala322=) n.1332-198G= c.1145C= (p.Ala382=) c.1247C= (p.Ala416=) c.1187C= (p.Ala396=) n.3607-198G= n.4043-198G= c.1070C= (p.Ala357=) c.1088C= (p.Ala363=) c.845C= (p.Ala282=) c.878C= (p.Ala293=) c.896C= (p.Ala299=) | dbSNP |