| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48465580G>T | CA490026430 | FBN1 | c.4930C>A (p.Arg1644=) n.3604C>A c.*693C>A (n.*693C>A) c.237C>A | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 15 | g.48465580G>C | CA392351073 | FBN1 | c.4930C>G (p.Arg1644Gly) n.3604C>G c.*693C>G (n.*693C>G) c.237C>G | ClinVar dbSNP |
| 15 | g.48465580G>A | CA015467 | FBN1 | c.4930C>T (p.Arg1644Ter) n.3604C>T c.*693C>T (n.*693C>T) c.237C>T | ClinVar dbSNP ExAC gnomAD v4 |