| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 4 | g.15480736C>T | CA150852 | CC2D2A | c.156C>T (p.Ser52=) c.9C>T (p.Ser3=) c.*44C>T (n.*44C>T) c.262C>T (p.Arg88Ter) n.336C>T n.311C>T c.139C>T (p.Arg47Ter) n.356C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.15480736C= | CA1440665121 | CC2D2A | c.156C= (p.Ser52=) c.9C= (p.Ser3=) c.*44C= (n.*44C=) c.262C= (p.Arg88=) n.336C= n.311C= c.139C= (p.Arg47=) n.356C= | dbSNP |