| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48487395C>A | CA16619960 | FBN1 | c.3380G>T (p.Gly1127Val) n.2054G>T c.637-12745G>T (n.637-12745G>T) | ClinVar dbSNP |
| 15 | g.48487395C>T | CA392326583 | FBN1 | c.3380G>A (p.Gly1127Asp) n.2054G>A c.637-12745G>A (n.637-12745G>A) | ClinVar dbSNP |