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. 2015 Aug 7;10(8):e0135088. doi: 10.1371/journal.pone.0135088

Table 3. SLC26A4 genotypes of deaf patients from Xiamen special education school.

Allele 1 Allele 2 Number of patients
Nucleotide change Consequence or amino acid change Category Nucleotide change Consequence or amino acid change Category
c.754T>C[17] p.S252P Pathogenic c.1738_1739delAA FS580,P606* Pathogenic 1
c.916_917insG[18] FS306,P329* Pathogenic c.2168A>G[19] p.H723R Pathogenic 1
c.IVS7-2A>G[7] aberrant splicing Pathogenic c.IVS7-2A>G aberrant splicing Pathogenic 5
c.IVS7-2A>G aberrant splicing Pathogenic c.1079C>T[20] p.A360V Pathogenic 3
c.IVS7-2A>G aberrant splicing Pathogenic c.2086C>T[21] p.Q696* Pathogenic 2
c.IVS7-2A>G aberrant splicing Pathogenic c.1336C>T[7] p.Q446* Pathogenic 1
c.IVS7-2A>G aberrant splicing Pathogenic c.2007C>G[22] p.D669E Pathogenic 1
c.IVS7-2A>G aberrant splicing Pathogenic c.2168A>G p.H723R Pathogenic 1
c.1079C>T p.A360V Pathogenic c.1079C>T p.A360V Pathogenic 1
c.1229C>T[17] p.T410M Pathogenic c.2168A>G p.H723R Pathogenic 1
c.1692_1693insA[6] FS565,P573* Pathogenic c.2168A>G p.H723R Pathogenic 1
c.147C>G[23] p.S49R pathogenic 1
c.IVS7-2A>G aberrant splicing Pathogenic 1
c.1472T>C[7] p.I491T Pathogenic 1
c.1595G>T[6] p.S532I Pathogenic 1
c.IVS16-6G>A [24] aberrant splicing Pathogenic 2
c.IVS16-6G>A aberrant splicing Pathogenic c.IVS11+47T>C[25] splice site variant Polymorphism 1
c.1764_1765insAGGAAAATA Frameshift Pathogenic 1
c.2009T>C[23] p.V670A Unknown 2
c.IVS7-18T>G[26] splice site variant Polymorphism 3
c.IVS7-18T>G splice site variant Polymorphism c.IVS11+47T>C splice site variant Polymorphism 1
c.1167G>A p.G389G Silent variants 1
c.IVS11+47T>C splice site variant Polymorphism c.IVS11+47T>C splice site variant Polymorphism 4
c.IVS11+47T>C splice site variant Polymorphism 23
c.1790T>C[27] p.L597S Polymorphism 1
c.2283A>G[6] p.T761T Silent variants 4

Note:

*: stop codon