| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.91887283A>G | CA342104 | FBLN5 | c.*615T>C (n.*615T>C) c.481T>C (p.Cys161Arg) c.823T>C (p.Cys275Arg) c.649T>C (p.Cys217Arg) n.569T>C c.*492T>C (n.*492T>C) c.*388T>C (n.*388T>C) c.772T>C (p.Cys258Arg) c.664T>C (p.Cys222Arg) c.700T>C (p.Cys234Arg) | ClinVar dbSNP |
| 14 | g.91887283A= | CA2155153585 | FBLN5 | c.*615T= (n.*615T=) c.481T= (p.Cys161=) c.823T= (p.Cys275=) c.649T= (p.Cys217=) n.569T= c.*492T= (n.*492T=) c.*388T= (n.*388T=) c.772T= (p.Cys258=) c.664T= (p.Cys222=) c.700T= (p.Cys234=) | dbSNP |