| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 5 | g.128339061T>A | CA351839 | FBN2 | n.128A>T n.209A>T c.3344A>T (p.Asp1115Val) c.-107A>T (n.-107A>T) c.3245A>T (p.Asp1082Val) c.3341A>T (p.Asp1114Val) c.3191A>T (p.Asp1064Val) | ClinVar dbSNP |
| 5 | g.128339061T= | CA1581271221 | FBN2 | n.128A= n.209A= c.3344A= (p.Asp1115=) c.-107A= (n.-107A=) c.3245A= (p.Asp1082=) c.3341A= (p.Asp1114=) c.3191A= (p.Asp1064=) | dbSNP |