| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.47612492C>A | CA3844480 | CD2AP | c.1834C>A (p.Arg612=) c.1822C>A (p.Arg608=) c.1814+3188C>A (n.1814+3188C>A) c.1687C>A (p.Arg563=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 6 | g.47612492C>T | CA117701 | CD2AP | c.1834C>T (p.Arg612Ter) c.1822C>T (p.Arg608Ter) c.1814+3188C>T (n.1814+3188C>T) c.1687C>T (p.Arg563Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.47612492C= | CA1626466383 | CD2AP | c.1834C= (p.Arg612=) c.1822C= (p.Arg608=) c.1814+3188C= (n.1814+3188C=) c.1687C= (p.Arg563=) | dbSNP |