| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48513591G>T | CA490028029 | FBN1 | c.1546C>A (p.Arg516=) n.220C>A c.636+24120C>A (n.636+24120C>A) | dbSNP |
| 15 | g.48513591G>A | CA012230 | FBN1 | c.1546C>T (p.Arg516Ter) n.220C>T c.636+24120C>T (n.636+24120C>T) | ClinVar dbSNP |
| 15 | g.48513591G>C | CA392342292 | FBN1 | c.1546C>G (p.Arg516Gly) n.220C>G c.636+24120C>G (n.636+24120C>G) | dbSNP |
| 15 | g.48513591G= | CA2175531409 | FBN1 | c.1546C= (p.Arg516=) n.220C= c.636+24120C= (n.636+24120C=) | dbSNP |