| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 16 | g.66529027G>A | CA322107 | TK2 | c.248C>T (p.Ala83Val) c.362C>T (p.Ala121Val) c.323C>T (p.Ala108Val) c.360C>T c.125C>T (p.Ala42Val) c.416C>T (p.Ala139Val) c.*274C>T (n.*274C>T) c.341C>T (p.Ala114Val) c.33-11150C>T c.90+2353C>T (n.90+2353C>T) c.95C>T (p.Ala32Val) c.306C>T (n.306C>T) c.488C>T (p.Ala163Val) c.542C>T (p.Ala181Val) c.310C>T c.269C>T (p.Ala90Val) n.1695C>T n.1405C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.66529027G>C | CA396189888 | TK2 | c.248C>G (p.Ala83Gly) c.362C>G (p.Ala121Gly) c.323C>G (p.Ala108Gly) c.360C>G c.125C>G (p.Ala42Gly) c.416C>G (p.Ala139Gly) c.*274C>G (n.*274C>G) c.341C>G (p.Ala114Gly) c.33-11150C>G c.90+2353C>G (n.90+2353C>G) c.95C>G (p.Ala32Gly) c.306C>G (n.306C>G) c.488C>G (p.Ala163Gly) c.542C>G (p.Ala181Gly) c.310C>G c.269C>G (p.Ala90Gly) n.1695C>G n.1405C>G | dbSNP |
| 16 | g.66529027G= | CA2228911883 | TK2 | c.248C= (p.Ala83=) c.362C= (p.Ala121=) c.323C= (p.Ala108=) c.360C= c.125C= (p.Ala42=) c.416C= (p.Ala139=) c.*274C= (n.*274C=) c.341C= (p.Ala114=) c.33-11150C= c.90+2353C= (n.90+2353C=) c.95C= (p.Ala32=) c.306C= (n.306C=) c.488C= (p.Ala163=) c.542C= (p.Ala181=) c.310C= c.269C= (p.Ala90=) n.1695C= n.1405C= | dbSNP |