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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)