Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
15 | g.48467975C>G | CA015361 | FBN1 | c.4710G>C (p.Trp1570Cys) n.3384G>C c.*473G>C (n.*473G>C) c.17G>C | ClinVar dbSNP |
15 | g.48467975C>T | CA392352902 | FBN1 | c.4710G>A (p.Trp1570Ter) n.3384G>A c.*473G>A (n.*473G>A) c.17G>A | ClinVar dbSNP COSMIC |
15 | g.48467975C>A | CA015367 | FBN1 | c.4710G>T (p.Trp1570Cys) n.3384G>T c.*473G>T (n.*473G>T) c.17G>T | ClinVar dbSNP |