Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
6 | g.18133884G>A | CA362834041 | TPMT | c.500C>T (p.Ala167Val) c.431C>T (p.Ala144Val) | dbSNP |
6 | g.18133884G>C | CA122648 | TPMT | c.500C>G (p.Ala167Gly) c.431C>G (p.Ala144Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
6 | g.18133884G= | CA1613549402 | TPMT | c.500C= (p.Ala167=) c.431C= (p.Ala144=) | dbSNP |