| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48463949C>G | CA500016 | FBN1 | c.5015G>C (p.Cys1672Ser) n.3689G>C c.14G>C (p.Cys5Ser) c.*778G>C (n.*778G>C) c.322G>C | ClinVar dbSNP |
| 15 | g.48463949C>A | CA269548255 | FBN1 | c.5015G>T (p.Cys1672Phe) n.3689G>T c.14G>T (p.Cys5Phe) c.*778G>T (n.*778G>T) c.322G>T | ClinVar dbSNP |
| 15 | g.48463949C>T | CA015547 | FBN1 | c.5015G>A (p.Cys1672Tyr) n.3689G>A c.14G>A (p.Cys5Tyr) c.*778G>A (n.*778G>A) c.322G>A | ClinVar dbSNP |