Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.41007057T>C | CA230632 | CYP2B6 | c.637T>C (p.Phe213Leu) c.539T>C c.256+2611T>C (n.256+2611T>C) n.221T>C n.539T>C c.484+2611T>C (n.484+2611T>C) c.46T>C (p.Phe16Leu) c.364+2611T>C (n.364+2611T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41007057T= | CA2336257532 | CYP2B6 | c.637T= (p.Phe213=) c.539T= c.256+2611T= (n.256+2611T=) n.221T= n.539T= c.484+2611T= (n.484+2611T=) c.46T= (p.Phe16=) c.364+2611T= (n.364+2611T=) | dbSNP |