Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.18130687T>A | CA362832116 | TPMT | c.719A>T (p.Tyr240Phe) c.674A>T (p.Tyr225Phe) c.650A>T (p.Tyr217Phe) | dbSNP |
6 | g.18130687T>G | CA134961548 | TPMT | c.719A>C (p.Tyr240Ser) c.674A>C (p.Tyr225Ser) c.650A>C (p.Tyr217Ser) | dbSNP |
6 | g.18130687T>C | CA122646 | TPMT | c.719A>G (p.Tyr240Cys) c.674A>G (p.Tyr225Cys) c.650A>G (p.Tyr217Cys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |