| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48503820C>A | CA16614667 | FBN1 | c.2080G>T (p.Glu694Ter) n.754G>T c.637-29170G>T (n.637-29170G>T) | ClinVar dbSNP COSMIC |
| 15 | g.48503820C= | CA2175526474 | FBN1 | c.2080G= (p.Glu694=) n.754G= c.637-29170G= (n.637-29170G=) | dbSNP |