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Table 5 Comparison of MTBP:g.19383758G > A genotypes with CNV_16.1

From: Whole genome sequencing identifies missense mutation in MTBP in Shar-Pei affected with Autoinflammatory Disease (SPAID)

MTBP:g.19383758G > A

A/A

A/G

G/G

All age groups (1–14 years)

 SPAID affected Shar-Pei

17

3

0

 SPAID unaffected Shar-Pei

3

6

2

 CNV mean (RT-PCR)

10.05

5.22

2.0

 CNV (ddPCR)

10

6

2

  MTBP:g.19383758G > A

A/A

A/G

G/G

Age group >6 years

 SPAID affected Shar-Pei

8

3

0

 SPAID unaffected Shar-Pei

0

3

1

 CNV mean (RT-PCR)

9.5

5.0

2.0

 CNV (ddPCR)

10

6

2

  1. The results of CNV detection by digital droplet PCR show perfect cosegregation with MTBP:g.19383758G > A