| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48513599C>G | CA392342362 | FBN1 | c.1538G>C (p.Cys513Ser) n.212G>C c.636+24112G>C (n.636+24112G>C) | ClinVar dbSNP |
| 15 | g.48513599C>A | CA16614674 | FBN1 | c.1538G>T (p.Cys513Phe) n.212G>T c.636+24112G>T (n.636+24112G>T) | ClinVar dbSNP |
| 15 | g.48513599C>T | CA392342365 | FBN1 | c.1538G>A (p.Cys513Tyr) n.212G>A c.636+24112G>A (n.636+24112G>A) | ClinVar dbSNP |