| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48460257C>A | CA16607804 | FBN1 | c.5285G>T (p.Gly1762Val) n.3959G>T c.284G>T (p.Gly95Val) c.*1048G>T (n.*1048G>T) c.592G>T | ClinVar dbSNP |
| 15 | g.48460257C= | CA2175513883 | FBN1 | c.5285G= (p.Gly1762=) n.3959G= c.284G= (p.Gly95=) c.*1048G= (n.*1048G=) c.592G= | dbSNP |
| 15 | g.48460257C>T | CA392347972 | FBN1 | c.5285G>A (p.Gly1762Asp) n.3959G>A c.284G>A (p.Gly95Asp) c.*1048G>A (n.*1048G>A) c.592G>A | ClinVar dbSNP |