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Table 1 The sensitivity of the multiplex PCR amplicon sequencing assay

From: A multiplex PCR amplicon sequencing assay to screen genetic hearing loss variants in newborns

Gene

Nucleotide variant

Homozygous

Heterozygous

Homoplasmy

Heteroplasmy

Total

Sensitivity (%)

GJB2

c.235delC

0

43

–

–

43

100

SLC26A4

c.919-2A>G

0

20

–

–

20

100

GJB2

c.109G>A

1

13

–

–

14

100

SLC26A4

c.1229C>T

0

9

–

–

9

100

GJB2

c.299_300delAT

0

9

–

–

9

100

MT-RNR1

m.1555A>G

–

–

4

1

5

100

SLC26A4

c.1707 + 5G>A

0

1

–

–

1

100

Total

–

1

95

4

1

101

100