| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 15 | g.48456691G>A | CA015774 | FBN1 | c.5368C>T (p.Arg1790Ter) n.4042C>T c.367C>T (p.Arg123Ter) c.*1131C>T (n.*1131C>T) c.675C>T | ClinVar dbSNP gnomAD v4 COSMIC |
| 15 | g.48456691G>C | CA392346040 | FBN1 | c.5368C>G (p.Arg1790Gly) n.4042C>G c.367C>G (p.Arg123Gly) c.*1131C>G (n.*1131C>G) c.675C>G | dbSNP |
| 15 | g.48456691G= | CA2175509458 | FBN1 | c.5368C= (p.Arg1790=) n.4042C= c.367C= (p.Arg123=) c.*1131C= (n.*1131C=) c.675C= | dbSNP |