| 15 | g.48463943C>A | CA015558 | FBN1 | c.5021G>T (p.Cys1674Phe)
n.3695G>T
c.20G>T (p.Cys7Phe)
c.*784G>T (n.*784G>T)
c.328G>T
| ClinVar dbSNP |
| 15 | g.48463943C>T | CA392349892 | FBN1 | c.5021G>A (p.Cys1674Tyr)
n.3695G>A
c.20G>A (p.Cys7Tyr)
c.*784G>A (n.*784G>A)
c.328G>A
| ClinVar dbSNP |
