Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
19 | g.41004303T>C | CA230628 | CYP2B6 | c.341T>C (p.Ile114Thr) c.243T>C c.113T>C (p.Ile38Thr) n.243T>C c.221T>C (p.Ile74Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
19 | g.41004303T= | CA2336256068 | CYP2B6 | c.341T= (p.Ile114=) c.243T= c.113T= (p.Ile38=) n.243T= c.221T= (p.Ile74=) | dbSNP |
19 | g.41004303T>A | CA405973386 | CYP2B6 | c.341T>A (p.Ile114Asn) c.243T>A c.113T>A (p.Ile38Asn) n.243T>A c.221T>A (p.Ile74Asn) | dbSNP gnomAD v4 |