Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.42127926C>G | CA411772674 | CYP2D6 | c.699G>C (p.Leu233=) c.901G>C (p.Asp301His) c.748G>C (p.Asp250His) c.519G>C (p.Leu173=) c.835G>C (p.Asp279His) n.1625G>C c.757G>C (p.Asp253His) c.843+248G>C (n.843+248G>C) | dbSNP gnomAD v2 gnomAD v4 |
22 | g.42127926C>T | CA324666461 | CYP2D6 | c.699G>A (p.Leu233=) c.901G>A (p.Asp301Asn) c.748G>A (p.Asp250Asn) c.519G>A (p.Leu173=) c.835G>A (p.Asp279Asn) n.1625G>A c.757G>A (p.Asp253Asn) c.843+248G>A (n.843+248G>A) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |