| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48503845G>T | CA012720 | FBN1 | c.2055C>A (p.Cys685Ter) n.729C>A c.637-29195C>A (n.637-29195C>A) | ClinVar dbSNP |
| 15 | g.48503845G>A | CA012737 | FBN1 | c.2055C>T (p.Cys685=) n.729C>T c.637-29195C>T (n.637-29195C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 15 | g.48503845G>C | CA012728 | FBN1 | c.2055C>G (p.Cys685Trp) n.729C>G c.637-29195C>G (n.637-29195C>G) | ClinVar dbSNP |