| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 14 | g.91887253A>G | CA340430 | FBLN5 | c.*645T>C (n.*645T>C) c.511T>C (p.Ser171Pro) c.853T>C (p.Ser285Pro) c.679T>C (p.Ser227Pro) n.599T>C c.*522T>C (n.*522T>C) c.*418T>C (n.*418T>C) c.802T>C (p.Ser268Pro) c.694T>C (p.Ser232Pro) c.730T>C (p.Ser244Pro) | ClinVar dbSNP |
| 14 | g.91887253A= | CA2155153518 | FBLN5 | c.*645T= (n.*645T=) c.511T= (p.Ser171=) c.853T= (p.Ser285=) c.679T= (p.Ser227=) n.599T= c.*522T= (n.*522T=) c.*418T= (n.*418T=) c.802T= (p.Ser268=) c.694T= (p.Ser232=) c.730T= (p.Ser244=) | dbSNP |