Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.42128218del | CA10264865 | CYP2D6 | c.652del (p.Arg218GlufsTer3) c.805del (p.Arg269GlufsTer3) c.472del (p.Arg158GlufsTer3) c.739del (p.Arg247GlufsTer3) n.1529del c.661del (p.Arg221GlufsTer3) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
22 | g.42128216_42128218del | CA2406579010 | CYP2D6 | c.650_652del (p.Pro217del) c.803_805del (p.Pro268del) c.470_472del (p.Pro157del) c.737_739del (p.Pro246del) n.1527_1529del c.659_661del (p.Pro220del) | dbSNP gnomAD v4 |
22 | g.42128218dup | CA10264863 | CYP2D6 | c.652dup (p.Arg218ProfsTer5) c.805dup (p.Arg269ProfsTer5) c.472dup (p.Arg158ProfsTer5) c.739dup (p.Arg247ProfsTer5) n.1529dup c.661dup (p.Arg221ProfsTer5) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |