| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.128349391C>A | CA16044044 | FBN2 | c.2945G>T (p.Cys982Phe) c.2846G>T (p.Cys949Phe) c.2942G>T (p.Cys981Phe) c.2792G>T (p.Cys931Phe) | ClinVar dbSNP |
| 5 | g.128349391C>T | CA360765270 | FBN2 | c.2945G>A (p.Cys982Tyr) c.2846G>A (p.Cys949Tyr) c.2942G>A (p.Cys981Tyr) c.2792G>A (p.Cys931Tyr) | ClinVar dbSNP |
| 5 | g.128349391C= | CA1581275918 | FBN2 | c.2945G= (p.Cys982=) c.2846G= (p.Cys949=) c.2942G= (p.Cys981=) c.2792G= (p.Cys931=) | dbSNP |