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Table 1 Performance of the assay in detecting small-scale alterations in the CFTR gene

From: Analytical parameters and validation of homopolymer detection in a pyrosequencing-based next generation sequencing system

Location

cDNA position

Legacy name

Mutation class

Sensitivity

i6

c.654-10delAGTT

786-10delAGTT

Splice site

1/1

i6

c.743 + 40A > G

875 + 40A/G

Splice site

1/1

i7

c.869 + 11C > T

1001 + 11C > T

Splice site

1/1

e8

c.926C > G

A309G

Missense

1/1

e11

c.1394C > T

T465I

Missense

1/1

e11

c.1397C > G

S466X

Nonsense

1/1

e11

c.1521_1523delCTT

F508del

In-frame deletion*

6/6

e12

c.1624G > T

G542X

Nonsense*

1/1

e14

c.2012delT

2143delT

Frameshift deletion

2/2

e14

c.2051_2052delAAinsG

2183AA > G

Frameshift insdel*

1/1

e14

c.2052_2053insA

2184insA

Frameshift insertion

6/6

e14

c.2052delA

2184delA

Frameshift deletion*

1/1

e15

c.2562 T > G

2694 T/G

Synonymous

4/4

i16

c.2657 + 5G > A

2789 + 5G > A

Splice site*

1/1

e17

c.2856G > C

M952I

Missense

1/1

e21

c.3454G > C

D1152H

Missense*

1/1

e23

c.3846G > A

W1282X

Nonsense*

1/1

e27

c.4389G > A

4521G/A

Synonymous

1/1

  1. Mutations that are included in the Elucigene CF29v2 kit are labelled with an asterisk