| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48463209G>A | CA054328 | FBN1 | c.5097C>T (p.Tyr1699=) n.3771C>T c.96C>T (p.Tyr32=) c.*860C>T (n.*860C>T) c.404C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48463209G>C | CA015630 | FBN1 | c.5097C>G (p.Tyr1699Ter) n.3771C>G c.96C>G (p.Tyr32Ter) c.*860C>G (n.*860C>G) c.404C>G | ClinVar dbSNP |
| 15 | g.48463209G= | CA2175515667 | FBN1 | c.5097C= (p.Tyr1699=) n.3771C= c.96C= (p.Tyr32=) c.*860C= (n.*860C=) c.404C= | dbSNP |