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Table 3 Genes with exons altered by deletion or duplication

From: Pathogenic convergence of CNVs in genes functionally associated to a severe neuromotor developmental delay syndrome

Gene

Exons deleted

Exons duplicated

CDS location of exons in gene sequence and aminoacids

NCBI Ref. sequence

PCDH19

 

3

59570-59628 (59 aa)

NG_021319.1

SLC17A5

7

 

32031-32189 (159 aa)

NG_008272.1

8

 

38546-38678 (133 aa)

 

9

 

43446-43593 (148 aa)

 

RYR3

2

 

162453-162572 (120 aa)

NG_047076.1

ELAVL2

3

 

95182-95285 (104 aa)

NG_016425.2

ATP1A2

2

 

5177-5281 (105 aa)

NG_008014.1

3

 

5463-5522 (60 aa)

 

4

 

7484-7687 (204 aa)

 

5

 

8214-8327 (114 aa)

 

6

 

8567-8701 (135 aa)

 

7

 

9407-9524 (117 aa)

 

ANO3

3

 

252796-252990 (195 aa)

NG_042856.1

4

 

254643-254714 (72 aa)

 

5

 

273908-274026 (119 aa)