| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48487356C>T | CA16614520 | FBN1 | c.3419G>A (p.Cys1140Tyr) n.2093G>A c.637-12706G>A (n.637-12706G>A) | ClinVar dbSNP |
| 15 | g.48487356C>A | CA392326365 | FBN1 | c.3419G>T (p.Cys1140Phe) n.2093G>T c.637-12706G>T (n.637-12706G>T) | ClinVar dbSNP |