| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48468070G>A | CA015241 | FBN1 | c.4615C>T (p.Arg1539Ter) n.3289C>T c.*378C>T (n.*378C>T) | ClinVar dbSNP gnomAD v4 COSMIC |
| 15 | g.48468070G>C | CA392353119 | FBN1 | c.4615C>G (p.Arg1539Gly) n.3289C>G c.*378C>G (n.*378C>G) | dbSNP |
| 15 | g.48468070G= | CA2175518259 | FBN1 | c.4615C= (p.Arg1539=) n.3289C= c.*378C= (n.*378C=) | dbSNP |