| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48463129C>T | CA16619954 | FBN1 | c.5177G>A (p.Gly1726Asp) n.3851G>A c.176G>A (p.Gly59Asp) c.*940G>A (n.*940G>A) c.484G>A | ClinVar dbSNP |
| 15 | g.48463129C>A | CA392349127 | FBN1 | c.5177G>T (p.Gly1726Val) n.3851G>T c.176G>T (p.Gly59Val) c.*940G>T (n.*940G>T) c.484G>T | ClinVar dbSNP gnomAD v2 |