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Table 9 Genotypes, activity score and predicted phenotypes for samples with gene duplications

From: Multiplex SNaPshot—a new simple and efficient CYP2D6 and ADRB1 genotyping method

Genotype (xN) before revision

Activity score

Predicted phenotype before revision

Genotype after revision

Activity score

Predicted phenotype after revision

*1/*2

3

UM

*1/*2xN

3

UM

*4/*41

0.5–1.0

IM OR EM

*4xN/*41

0.5

IM

*1/*2

3

UM

*1xN/*2

3

UM

*1/*1

3

UM

*1/*1xNa

3

UM

*1/*4

1.0–2.0

EM

*1/*4xN

1

EM

*4/*5

0

PM

*4xN/*5

0

PM

*2/*2

3

UM

*2/*2xNa

3

UM

*2/*17

2.0–2.5

UM OR EM

*2/*17xN

2

EM

*4/*10

0.5–1.0

IM

*4xN/*10b

0.5

IM

*1/*2

3

UM

*1xN/*2

3

UM

*2/*17

2.0–2.5

UM OR EM

*2/*17xN

2

EM

*4/*5

0

PM

*4xN/*5

0

PM

*2/*12

1.0–2.0

EM

*2xN/*12

2

EM

  1. aThe number of duplication alleles is far less than single-copy alleles. We assumed the subject was heterozygous for a single-copy allele and the duplicated/multiplicated allele
  2. bNo reference
  3. *4 had a higher distribution or copy number in comparison with *10