Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.48445492C>T | CA016083 | FBN1 | c.5801G>A (p.Cys1934Tyr) n.4475G>A c.800G>A (p.Cys267Tyr) c.*1564G>A (n.*1564G>A) c.1108G>A | ClinVar dbSNP |
15 | g.48445492C>G | CA392340225 | FBN1 | c.5801G>C (p.Cys1934Ser) n.4475G>C c.800G>C (p.Cys267Ser) c.*1564G>C (n.*1564G>C) c.1108G>C | ClinVar dbSNP |