| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.128395230A>G | CA321643 | FBN2 | n.830T>C c.1123T>C (p.Cys375Arg) c.1024T>C (p.Cys342Arg) c.1120T>C (p.Cys374Arg) c.1079-1862T>C (n.1079-1862T>C) | ClinVar dbSNP |
| 5 | g.128395230A>T | CA3395879 | FBN2 | n.830T>A c.1123T>A (p.Cys375Ser) c.1024T>A (p.Cys342Ser) c.1120T>A (p.Cys374Ser) c.1079-1862T>A (n.1079-1862T>A) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.128395230A= | CA1581295586 | FBN2 | n.830T= c.1123T= (p.Cys375=) c.1024T= (p.Cys342=) c.1120T= (p.Cys374=) c.1079-1862T= (n.1079-1862T=) | dbSNP |