| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48505037G>A | CA012686 | FBN1 | c.1948C>T (p.Arg650Cys) n.622C>T c.637-30387C>T (n.637-30387C>T) | ClinVar dbSNP gnomAD v4 |
| 15 | g.48505037G= | CA2175527349 | FBN1 | c.1948C= (p.Arg650=) n.622C= c.637-30387C= (n.637-30387C=) | dbSNP |
| 15 | g.48505037G>C | CA392338978 | FBN1 | c.1948C>G (p.Arg650Gly) n.622C>G c.637-30387C>G (n.637-30387C>G) | dbSNP |