| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48452595C>T | CA392344045 | FBN1 | c.5512G>A (p.Gly1838Ser) n.4186G>A c.511G>A (p.Gly171Ser) c.*1275G>A (n.*1275G>A) c.819G>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 15 | g.48452595C>G | CA392344046 | FBN1 | c.5512G>C (p.Gly1838Arg) n.4186G>C c.511G>C (p.Gly171Arg) c.*1275G>C (n.*1275G>C) c.819G>C | ClinVar dbSNP |
| 15 | g.48452595C>A | CA015847 | FBN1 | c.5512G>T (p.Gly1838Cys) n.4186G>T c.511G>T (p.Gly171Cys) c.*1275G>T (n.*1275G>T) c.819G>T | ClinVar dbSNP |