| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48446814C>T | CA16607803 | FBN1 | c.5680G>A (p.Glu1894Lys) n.4354G>A c.679G>A (p.Glu227Lys) c.*1443G>A (n.*1443G>A) c.987G>A | ClinVar dbSNP |
| 15 | g.48446814C= | CA2175495421 | FBN1 | c.5680G= (p.Glu1894=) n.4354G= c.679G= (p.Glu227=) c.*1443G= (n.*1443G=) c.987G= | dbSNP |