| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48437347G>C | CA016350 | FBN1 | c.6354C>G (p.Ile2118Met) c.1353C>G (p.Ile451Met) c.*2117C>G (n.*2117C>G) c.1661C>G | ClinVar dbSNP |
| 15 | g.48437347G>A | CA016359 | FBN1 | c.6354C>T (p.Ile2118=) c.1353C>T (p.Ile451=) c.*2117C>T (n.*2117C>T) c.1661C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48437347G= | CA2175503026 | FBN1 | c.6354C= (p.Ile2118=) c.1353C= (p.Ile451=) c.*2117C= (n.*2117C=) c.1661C= | dbSNP |