| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.128335562A>G | CA174027 | FBN2 | n.524T>C n.605T>C c.3740T>C (p.Met1247Thr) c.290T>C (p.Met97Thr) c.3641T>C (p.Met1214Thr) c.3737T>C (p.Met1246Thr) c.3587T>C (p.Met1196Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128335562A= | CA1581269634 | FBN2 | n.524T= n.605T= c.3740T= (p.Met1247=) c.290T= (p.Met97=) c.3641T= (p.Met1214=) c.3737T= (p.Met1246=) c.3587T= (p.Met1196=) | dbSNP |