| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.128336042G>A | CA320061 | FBN2 | n.454C>T n.535C>T c.3670C>T (p.Gln1224Ter) c.220C>T (p.Gln74Ter) c.3571C>T (p.Gln1191Ter) c.3667C>T (p.Gln1223Ter) c.3517C>T (p.Gln1173Ter) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.128336042G= | CA1581269842 | FBN2 | n.454C= n.535C= c.3670C= (p.Gln1224=) c.220C= (p.Gln74=) c.3571C= (p.Gln1191=) c.3667C= (p.Gln1223=) c.3517C= (p.Gln1173=) | dbSNP |
| 5 | g.128336042G>C | CA360758290 | FBN2 | n.454C>G n.535C>G c.3670C>G (p.Gln1224Glu) c.220C>G (p.Gln74Glu) c.3571C>G (p.Gln1191Glu) c.3667C>G (p.Gln1223Glu) c.3517C>G (p.Gln1173Glu) | dbSNP gnomAD v4 |