| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48474554C>T | CA16614649 | FBN1 | c.4061G>A (p.Trp1354Ter) n.2735G>A c.733G>A (p.Gly245Arg) | ClinVar dbSNP |
| 15 | g.48474554C= | CA2175495942 | FBN1 | c.4061G= (p.Trp1354=) n.2735G= c.733G= (p.Gly245=) | dbSNP |
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48474554C>T | CA16614649 | FBN1 | c.4061G>A (p.Trp1354Ter) n.2735G>A c.733G>A (p.Gly245Arg) | ClinVar dbSNP |
| 15 | g.48474554C= | CA2175495942 | FBN1 | c.4061G= (p.Trp1354=) n.2735G= c.733G= (p.Gly245=) | dbSNP |