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Table 3 Genotypes of patients and controls with variants in GJB3 gene

From: Comprehensive molecular etiology analysis of nonsyndromic hearing impairment from typical areas in China

Allele 1 Allele 2 Domain Number of patientsd Number of controls
Nucleotide Change Consequence or amino acid change Category Nucleotide change Consequence or amino acid change Category  
c.24_49ins26bp Frameshift Novel pathogenic -    IC1 1  
c.497A>G N166S Novel pathogenic -    EC2 1  
c.580G>A A194T Unclassified -    TM4   2
c.250A>G V84I Polymorphism -    TM2 2  
c.250A>G V84I Polymorphism c.250A>G V84I Polymorphism    1
c.357C>T N119N Polymorphism -    IC2 39 38
c.357C>T N119N Polymorphism c.357C>T N119N Polymorphism    2
c.327C>T H109H Novel
Polymorphism
-    IC2   1
c.87C>T F29F Polymorphism -    TM1 1 2
  1. TM, transmembrane domain; EC, extracellular domain; IC, intracellular domain.