| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 2 | g.215376610C>G | CA352250 | FN1 | c.5775G>C (p.Trp1925Cys) c.5502G>C (p.Trp1834Cys) c.5232G>C (p.Trp1744Cys) c.5505G>C (p.Trp1835Cys) c.1653G>C (p.Trp551Cys) n.860G>C n.6912G>C n.132+3073C>G | ClinVar dbSNP gnomAD v4 |
| 2 | g.215376610C= | CA1327346880 | FN1 | c.5775G= (p.Trp1925=) c.5502G= (p.Trp1834=) c.5232G= (p.Trp1744=) c.5505G= (p.Trp1835=) c.1653G= (p.Trp551=) n.860G= n.6912G= n.132+3073C= | dbSNP |