| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48468097G>A | CA015232 | FBN1 | c.4588C>T (p.Arg1530Cys) n.3262C>T c.*351C>T (n.*351C>T) | ClinVar dbSNP gnomAD v4 COSMIC |
| 15 | g.48468097G>T | CA392353179 | FBN1 | c.4588C>A (p.Arg1530Ser) n.3262C>A c.*351C>A (n.*351C>A) | ClinVar dbSNP |
| 15 | g.48468097G= | CA2175518273 | FBN1 | c.4588C= (p.Arg1530=) n.3262C= c.*351C= (n.*351C=) | dbSNP |
| 15 | g.48468097G>C | CA392353178 | FBN1 | c.4588C>G (p.Arg1530Gly) n.3262C>G c.*351C>G (n.*351C>G) | dbSNP |