| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.66531382G>A | CA343305 | TK2 | c.205C>T (p.Gln69Ter) c.319C>T (p.Gln107Ter) c.280C>T (p.Gln94Ter) c.317C>T c.82C>T (p.Gln28Ter) c.373C>T (p.Gln125Ter) c.*231C>T (n.*231C>T) c.298C>T (p.Gln100Ter) c.33-13505C>T c.88C>T (p.Gln30Ter) n.260C>T c.55-2315C>T (n.55-2315C>T) c.263C>T (n.263C>T) c.120C>T c.445C>T (p.Gln149Ter) c.499C>T (p.Gln167Ter) c.267C>T c.226C>T (p.Gln76Ter) n.1652C>T n.1362C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.66531382G= | CA2228912948 | TK2 | c.205C= (p.Gln69=) c.319C= (p.Gln107=) c.280C= (p.Gln94=) c.317C= c.82C= (p.Gln28=) c.373C= (p.Gln125=) c.*231C= (n.*231C=) c.298C= (p.Gln100=) c.33-13505C= c.88C= (p.Gln30=) n.260C= c.55-2315C= (n.55-2315C=) c.263C= (n.263C=) c.120C= c.445C= (p.Gln149=) c.499C= (p.Gln167=) c.267C= c.226C= (p.Gln76=) n.1652C= n.1362C= | dbSNP |