| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.66512006G>A | CA343320 | TK2 | c.592C>T (p.Arg198Ter) c.706C>T (p.Arg236Ter) c.667C>T (p.Arg223Ter) c.623C>T c.469C>T (p.Arg157Ter) c.760C>T (p.Arg254Ter) c.*618C>T (n.*618C>T) c.*57C>T (n.*57C>T) n.61C>T c.61C>T (p.Arg21Ter) n.81+1725C>T c.208C>T (p.Arg70Ter) c.832C>T (p.Arg278Ter) c.886C>T (p.Arg296Ter) c.685C>T (p.Arg229Ter) n.258+1725C>T c.148+1725C>T c.53+1725C>T n.576C>T n.287C>T n.415C>T c.811C>T (p.Arg271Ter) c.485C>T c.613C>T (p.Arg205Ter) n.2039C>T n.1749C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.66512006G>C | CA396186629 | TK2 | c.592C>G (p.Arg198Gly) c.706C>G (p.Arg236Gly) c.667C>G (p.Arg223Gly) c.623C>G c.469C>G (p.Arg157Gly) c.760C>G (p.Arg254Gly) c.*618C>G (n.*618C>G) c.*57C>G (n.*57C>G) n.61C>G c.61C>G (p.Arg21Gly) n.81+1725C>G c.208C>G (p.Arg70Gly) c.832C>G (p.Arg278Gly) c.886C>G (p.Arg296Gly) c.685C>G (p.Arg229Gly) n.258+1725C>G c.148+1725C>G c.53+1725C>G n.576C>G n.287C>G n.415C>G c.811C>G (p.Arg271Gly) c.485C>G c.613C>G (p.Arg205Gly) n.2039C>G n.1749C>G | dbSNP gnomAD v4 |