| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.127426178C>T | CA114394 | PROC | c.629C>T (p.Pro210Leu) c.121-2179C>T c.731C>T (p.Pro244Leu) n.215C>T c.812C>T (p.Pro271Leu) c.794C>T (p.Pro265Leu) c.692C>T (p.Pro231Leu) c.872C>T (p.Pro291Leu) c.974C>T (p.Pro325Leu) c.914C>T (p.Pro305Leu) n.4407G>A c.797C>T (p.Pro266Leu) c.815C>T (p.Pro272Leu) c.572C>T (p.Pro191Leu) c.605C>T (p.Pro202Leu) c.623C>T (p.Pro208Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 2 | g.127426178C= | CA1286883438 | PROC | c.629C= (p.Pro210=) c.121-2179C= c.731C= (p.Pro244=) n.215C= c.812C= (p.Pro271=) c.794C= (p.Pro265=) c.692C= (p.Pro231=) c.872C= (p.Pro291=) c.974C= (p.Pro325=) c.914C= (p.Pro305=) n.4407G= c.797C= (p.Pro266=) c.815C= (p.Pro272=) c.572C= (p.Pro191=) c.605C= (p.Pro202=) c.623C= (p.Pro208=) | dbSNP |