Table 2 Details of the target region studied in this study.

From: High-throughput sequencing for the molecular diagnosis of Usher syndrome reveals 42 novel mutations and consolidates CEP250 as Usher-like disease causative

Chr

Gene/locus

Isoform

Coding exons

Additional exons

Size (bp)

Number of amplicons

Design coverage

11

MYO7A

NM_000260.3

48

3

7642

88

98.6%

11

USH1C

NM_153676

27

2

3334

38

94.2%

10

CDH23

NM_022124.5

69

4

11849

120

99.5%

10

PCDH15

NM_033056.3

32

11

8284

67

98.2%

17

USH1G

NM_173477.2

3

1

1446

12

100%

15

CIB2

NM_006383.2

6

1

684

8

95%

1

USH2A

NM_206933

71

1

17043

134

98.9%

1

216064460–216064620a

—

—

—

160

1

100%

5

ADGRV1

NM_032119.3

89

1

20721

181

99.4%

9

WHRN

NM_015404

12

2

2964

26

100%

3

CLRN1

NM_174878

3

6

1051

9

100%

5

HARS

NM_002109

13

2

1790

14

100%

10

PDZD7

NM_001195263.1

17

—

3474

31

97.5%

20

CEP250

NM_007186.4

32

—

7969

58

100%

2

C2orf71

NM_001029883.2

2

—

3907

23

99.6%

  1. Chr, Chromosome number.
  2. aRegion of the USH2A PE (Pseudo-exon 40) where mutation c.7595 − 2144A > G is located.
  3. The design included a padding of 10 bp of the flanking intronic regions. All the target regions were covered by 810 amplicons, computing a total panel size of 147.95 kb.
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