| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48596360C>G | CA16607111 | FBN1 | c.461G>C (p.Cys154Ser) | ClinVar dbSNP |
| 15 | g.48596360C= | CA2175565010 | FBN1 | c.461G= (p.Cys154=) | dbSNP |
| 15 | g.48596360C>T | CA392446379 | FBN1 | c.461G>A (p.Cys154Tyr) | ClinVar dbSNP |
| 15 | g.48596360C>A | CA392446378 | FBN1 | c.461G>T (p.Cys154Phe) | ClinVar dbSNP |