Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
7 | g.33021334A>G | CA4213449 | NT5C3A | c.240T>C (p.Tyr80=) c.378T>C (p.Tyr126=) c.276T>C (p.Tyr92=) c.393T>C (p.Tyr131=) c.*283T>C (n.*283T>C) c.279T>C (p.Tyr93=) c.177T>C (p.Tyr59=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
7 | g.33021334A>T | CA367192797 | NT5C3A | c.240T>A (p.Tyr80Ter) c.378T>A (p.Tyr126Ter) c.276T>A (p.Tyr92Ter) c.393T>A (p.Tyr131Ter) c.*283T>A (n.*283T>A) c.279T>A (p.Tyr93Ter) c.177T>A (p.Tyr59Ter) | dbSNP gnomAD v3 gnomAD v4 |
7 | g.33021334A>C | CA367192794 | NT5C3A | c.240T>G (p.Tyr80Ter) c.378T>G (p.Tyr126Ter) c.276T>G (p.Tyr92Ter) c.393T>G (p.Tyr131Ter) c.*283T>G (n.*283T>G) c.279T>G (p.Tyr93Ter) c.177T>G (p.Tyr59Ter) | dbSNP gnomAD v4 |