| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.215376612A>T | CA126364 | FN1 | c.5773T>A (p.Trp1925Arg) c.5500T>A (p.Trp1834Arg) c.5230T>A (p.Trp1744Arg) c.5503T>A (p.Trp1835Arg) c.1651T>A (p.Trp551Arg) n.858T>A n.6910T>A n.132+3075A>T | ClinVar dbSNP |
| 2 | g.215376612A= | CA1327346881 | FN1 | c.5773T= (p.Trp1925=) c.5500T= (p.Trp1834=) c.5230T= (p.Trp1744=) c.5503T= (p.Trp1835=) c.1651T= (p.Trp551=) n.858T= n.6910T= n.132+3075A= | dbSNP |
| 2 | g.215376612A>G | CA350471586 | FN1 | c.5773T>C (p.Trp1925Arg) c.5500T>C (p.Trp1834Arg) c.5230T>C (p.Trp1744Arg) c.5503T>C (p.Trp1835Arg) c.1651T>C (p.Trp551Arg) n.858T>C n.6910T>C n.132+3075A>G | ClinVar dbSNP gnomAD v4 |