| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.128274648G>A | CA360753408 | FBN2 | n.4414C>T c.7630C>T (p.Gln2544Ter) c.7627C>T (p.Gln2543Ter) c.7477C>T (p.Gln2493Ter) | ClinVar dbSNP |
| 5 | g.128274648G= | CA1581240643 | FBN2 | n.4414C= c.7630C= (p.Gln2544=) c.7627C= (p.Gln2543=) c.7477C= (p.Gln2493=) | dbSNP |