Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.48610775C>T | CA10576993 | FBN1 | c.299G>A (p.Cys100Tyr) | ClinVar dbSNP |
15 | g.48610775C>A | CA013619 | FBN1 | c.299G>T (p.Cys100Phe) | ClinVar dbSNP |
15 | g.48610775C= | CA2175573529 | FBN1 | c.299G= (p.Cys100=) | dbSNP |