| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48505069C>T | CA10583253 | FBN1 | c.1916G>A (p.Cys639Tyr) n.590G>A c.637-30419G>A (n.637-30419G>A) | ClinVar dbSNP |
| 15 | g.48505069C>G | CA392339043 | FBN1 | c.1916G>C (p.Cys639Ser) n.590G>C c.637-30419G>C (n.637-30419G>C) | ClinVar dbSNP |
| 15 | g.48505069C>A | CA392339042 | FBN1 | c.1916G>T (p.Cys639Phe) n.590G>T c.637-30419G>T (n.637-30419G>T) | ClinVar dbSNP |