Table 4 Changes detected on the OpenArray™ plates analyzed, and the mutations detected during the validation

GJB2

c.35delG/N

40

34

c.35delG/ c.35delG

34

31

p.M34T/N

14

11

p.M34T/ p.M34T

2

2

p.K168R/N

6

6

p.V37I/N

4

3

p.L90P/N

6

6

c.167delT/N

3

3

p.R143W/N

2

2

p.V153I/ p.V153I

1

1

p.V153I/N

2

1

p.E147K/N

2

2

p.R184P/N

4

4

p.R184W/N

2

2

p.E129K/N

2

1

p.W172X/ p.W172X

1

1

p.N206S/N

2

2

p.V95M/N

0

1

p.W24X/N

3

2

c.35delG/N + p.V95M/N

3

3

c.35delG/N + p.V37I/N

2

2

c.35delG/N + p.R184P/N

2

2

c.35delG/N + p.W24X/N

2

2

c.35delG/N + c.167delT/N

2

2

c.35delG/N + p.V153I/N

1

1

c.35delG/N + p.L90P/N

1

1

p.V37I/N + p.V95M/N

2

2

p.V37I/N + c.167delT/N

1

1

p.M34T/N + p.N206S/N

1

1

p.M34T/N + p.R184W/N

1

1

p.V609G/N + p.E129K/N

1

1

p.V609G/N + p.K168R/N

1

1

GJB6

del(GJB6-D13S1830)/N

0

3

del(GJB6-D13S1854)/N

0

1

MT-RNR1

m.A1555G

6

6

MT-TS1

m.A7445G

1

1

SLC26A4

p.V609G/ p.V609G

3

1

p.V609G/N

16

10

p.G149R/N

3

1

p.Q413R/N

0

1