Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.48750557A>C | CA250597 | FUT1 | c.725T>G (p.Leu242Arg) c.1094T>G (p.Leu365Arg) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.48750557A= | CA2340052721 | FUT1 | c.725T= (p.Leu242=) c.1094T= (p.Leu365=) | dbSNP |
19 | g.48750557A>T | CA406702506 | FUT1 | c.725T>A (p.Leu242His) c.1094T>A (p.Leu365His) | dbSNP |