| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.127423397G>A | CA55345553 | PROC | c.524G>A (p.Cys175Tyr) c.109G>A c.626G>A (p.Cys209Tyr) c.467G>A (p.Cys156Tyr) n.110G>A c.707G>A (p.Cys236Tyr) c.689G>A (p.Cys230Tyr) c.587G>A (p.Cys196Tyr) c.767G>A (p.Cys256Tyr) c.869G>A (p.Cys290Tyr) c.809G>A (p.Cys270Tyr) c.692G>A (p.Cys231Tyr) c.710G>A (p.Cys237Tyr) c.500G>A (p.Cys167Tyr) c.518G>A (p.Cys173Tyr) | ClinVar dbSNP gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 2 | g.127423397G= | CA1286882168 | PROC | c.524G= (p.Cys175=) c.109G= c.626G= (p.Cys209=) c.467G= (p.Cys156=) n.110G= c.707G= (p.Cys236=) c.689G= (p.Cys230=) c.587G= (p.Cys196=) c.767G= (p.Cys256=) c.869G= (p.Cys290=) c.809G= (p.Cys270=) c.692G= (p.Cys231=) c.710G= (p.Cys237=) c.500G= (p.Cys167=) c.518G= (p.Cys173=) | dbSNP |