Table 2.
Most common CYP2D6 diplotypes with copy number variation (CNV).
| CNV diplotype | No. of patients | Phenotype | Phenotype depends on CNV assignment | Alternative phenotype |
|---|---|---|---|---|
| *1/*2xN | 146 | Ultrarapid | No | |
| *1/*1xN | 138 | Ultrarapid | No | |
| *1/*4xN | 112 | Intermediate | Yes | Normal |
| *1/*10xN | 58 | Normal | No | |
| *4/*4xN | 56 | Poor | No | |
| *2/*2xN | 56 | Ultrarapid | No | |
| *2xN/*4 | 52 | Normal | Yes | Intermediate |
| *2/*4xN | 42 | Intermediate | Yes | Normal |
| *10/*10xN | 41 | Intermediate | No | |
| *1xN/*4 | 36 | Normal | Yes | Intermediate |
| *2xN/*41 | 30 | Ultrarapid | Yes | Normal |
| *1xN/*2 | 30 | Ultrarapid | No |
This table shows the most common diplotypes that were observed in those patients found to have CNVs (of the 15,000-patient PGx cohort). Accurate CNV assignment was performed using NGS + MassARRAY®. The Phenotype field shows the codified phenotype with allele assignment, and the Alternative Phenotype shows what the phenotype would be if the other allele had been copied (i.e., when the phenotype depends on accurate CNV assignment).