| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 6 | g.112061098C>T | CA451900930 | CCN6 | c.156C>T (p.Cys52=) c.60C>T (p.Cys20=) c.210C>T (p.Cys70=) c.-507-181C>T (n.-507-181C>T) n.90C>T n.346C>T n.266C>T c.219C>T (p.Cys73=) c.294C>T (p.Cys98=) n.694C>T n.410C>T n.237C>T | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 6 | g.112061098C>A | CA118180 | CCN6 | c.156C>A (p.Cys52Ter) c.60C>A (p.Cys20Ter) c.210C>A (p.Cys70Ter) c.-507-181C>A (n.-507-181C>A) n.90C>A n.346C>A n.266C>A c.219C>A (p.Cys73Ter) c.294C>A (p.Cys98Ter) n.694C>A n.410C>A n.237C>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |