| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48464998A>C | CA2175516936 | FBN1 | c.4942+570T>G (n.4942+570T>G) n.3616+570T>G c.*705+570T>G (n.*705+570T>G) c.249+570T>G | dbSNP |
| 15 | g.48464998A>G | CA15838121 | FBN1 | c.4942+570T>C (n.4942+570T>C) n.3616+570T>C c.*705+570T>C (n.*705+570T>C) c.249+570T>C | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48464998A>T | CA2175516937 | FBN1 | c.4942+570T>A (n.4942+570T>A) n.3616+570T>A c.*705+570T>A (n.*705+570T>A) c.249+570T>A | dbSNP |