Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
---|---|---|---|---|---|
22 | g.42128176_42128178dup | CA2738133250 | CYP2D6 | c.688_690dup (p.Lys230_Trp231insLys) c.841_843dup (p.Lys281_Ala282insLys) c.688_690dup (p.Lys230_Ala231insLys) c.508_510dup (p.Lys170_Trp171insLys) c.775_777dup (p.Lys259_Ala260insLys) n.1565_1567dup c.697_699dup (p.Lys233_Ala234insLys) | dbSNP |
22 | g.42128176_42128178del | CA10264848 | CYP2D6 | c.688_690del (p.Lys230del) c.841_843del (p.Lys281del) c.508_510del (p.Lys170del) c.775_777del (p.Lys259del) n.1565_1567del c.697_699del (p.Lys233del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |