| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48437069C>T | CA016399 | FBN1 | c.6388G>A (p.Glu2130Lys) c.1387G>A (p.Glu463Lys) c.*2151G>A (n.*2151G>A) c.1695G>A | ClinVar dbSNP gnomAD v2 COSMIC |
| 15 | g.48437069C>A | CA392336700 | FBN1 | c.6388G>T (p.Glu2130Ter) c.1387G>T (p.Glu463Ter) c.*2151G>T (n.*2151G>T) c.1695G>T | ClinVar dbSNP |