| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.127428495C>T | CA114431 | PROC | c.935C>T (p.Ser312Leu) c.259C>T c.1037C>T (p.Ser346Leu) c.1118C>T (p.Ser373Leu) c.1100C>T (p.Ser367Leu) c.998C>T (p.Ser333Leu) n.1332-231G>A c.1178C>T (p.Ser393Leu) c.1280C>T (p.Ser427Leu) c.1220C>T (p.Ser407Leu) n.3607-231G>A n.4043-231G>A c.1103C>T (p.Ser368Leu) c.1121C>T (p.Ser374Leu) c.878C>T (p.Ser293Leu) c.911C>T (p.Ser304Leu) c.929C>T (p.Ser310Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 2 | g.127428495C>A | CA348404950 | PROC | c.935C>A (p.Ser312Ter) c.259C>A c.1037C>A (p.Ser346Ter) c.1118C>A (p.Ser373Ter) c.1100C>A (p.Ser367Ter) c.998C>A (p.Ser333Ter) n.1332-231G>T c.1178C>A (p.Ser393Ter) c.1280C>A (p.Ser427Ter) c.1220C>A (p.Ser407Ter) n.3607-231G>T n.4043-231G>T c.1103C>A (p.Ser368Ter) c.1121C>A (p.Ser374Ter) c.878C>A (p.Ser293Ter) c.911C>A (p.Ser304Ter) c.929C>A (p.Ser310Ter) | dbSNP gnomAD v4 |
| 2 | g.127428495C= | CA1286884500 | PROC | c.935C= (p.Ser312=) c.259C= c.1037C= (p.Ser346=) c.1118C= (p.Ser373=) c.1100C= (p.Ser367=) c.998C= (p.Ser333=) n.1332-231G= c.1178C= (p.Ser393=) c.1280C= (p.Ser427=) c.1220C= (p.Ser407=) n.3607-231G= n.4043-231G= c.1103C= (p.Ser368=) c.1121C= (p.Ser374=) c.878C= (p.Ser293=) c.911C= (p.Ser304=) c.929C= (p.Ser310=) | dbSNP |