| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48516225G>A | CA012048 | FBN1 | c.1285C>T (p.Arg429Ter) c.636+21486C>T (n.636+21486C>T) | ClinVar dbSNP |
| 15 | g.48516225G= | CA2175533469 | FBN1 | c.1285C= (p.Arg429=) c.636+21486C= (n.636+21486C=) | dbSNP |
| 15 | g.48516225G>C | CA392345458 | FBN1 | c.1285C>G (p.Arg429Gly) c.636+21486C>G (n.636+21486C>G) | dbSNP |