| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.128332993G>T | CA319740 | FBN2 | n.925C>A n.1006C>A c.4141C>A (p.His1381Asn) c.691C>A (p.His231Asn) c.4042C>A (p.His1348Asn) c.4138C>A (p.His1380Asn) c.3988C>A (p.His1330Asn) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128332993G= | CA1581268404 | FBN2 | n.925C= n.1006C= c.4141C= (p.His1381=) c.691C= (p.His231=) c.4042C= (p.His1348=) c.4138C= (p.His1380=) c.3988C= (p.His1330=) | dbSNP |