| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48508645C>A | CA16606976 | FBN1 | c.1774G>T (p.Gly592Cys) n.448G>T c.636+29066G>T (n.636+29066G>T) | ClinVar dbSNP |
| 15 | g.48508645C= | CA2175529252 | FBN1 | c.1774G= (p.Gly592=) n.448G= c.636+29066G= (n.636+29066G=) | dbSNP |