| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48537704G>A | CA016459 | FBN1 | c.643C>T (p.Arg215Ter) c.636+7C>T (n.636+7C>T) | ClinVar dbSNP |
| 15 | g.48537704G>C | CA056783 | FBN1 | c.643C>G (p.Arg215Gly) c.636+7C>G (n.636+7C>G) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48537704G= | CA2175539397 | FBN1 | c.643C= (p.Arg215=) c.636+7C= (n.636+7C=) | dbSNP |