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Table 2 Genotypes of SLC26A4 gene-related hearing impairment in Yunnan

From: Genetic mutations in nonsyndromic deafness patients of Chinese minority and han ethnicities in Yunnan, China

Allele1    Allele2    
Nucleotide change Consequence or amino change Category Nucleotide change Consequence or amino change Category Number of patients
c.IVS7-2A > G aberrant splicing Pathogenic c.IVS7-2A > G aberrant splicing Pathogenic 4 EVA
c.IVS7-2A > G aberrant splicing Pathogenic c.IVS7-2A > G aberrant splicing Pathogenic 1 nl
c.IVS7-2A > G aberrant splicing Pathogenic c.754 T > C S252P Pathogenic 1 ND
c.IVS7-2A > G aberrant splicing Pathogenic c.1548insC FX517,526X Pathogenic 1 EVA
c.2168A > G H723R Pathogenic c.1079 T > C A360V Pathogenic 1 EVA
c.2168A > G H723R Pathogenic c.84C > A S28R Pathogenic 1 nl
c.IVS7-2A > G aberrant splicing Pathogenic c.1975G > C V659L Pathogenic 1 EVA
c.IVS7-2A > G aberrant splicing Pathogenic c.IVS9 + 1G > A aberrant splicing Pathogenic 2 EVA
c.IVS7-2A > G aberrant splicing Pathogenic c.2265C > A T755T Silent variant 1 EVA
c.IVS7-2A > G aberrant splicing Pathogenic c.IVS5 + 27 T > C Variant in intron Unclassified variant 1 EVA
c.1548insC FX517,526X Pathogenic c.IVS11 + 47 T > C Variant in intron Unclassified variant 1 EVA
c.2168A > G H723R Pathogenic     1 EVA
c.IVS7-2A > G aberrant splicing Pathogenic     3 nl
c.IVS7-2A > G aberrant splicing Pathogenic     1 EVA
c.intron6-75_ 76 insTGTG aberrant splicing Unclassified variant     1 nl
c.IVS7 + 35A > G Variant in intron Unclassified variant     1 nl
c.IVS7 + 40G > A Variant in intron Unclassified variant     1 nl
WT    WT    2 EVA
  1. nl, normal; EVA, enlarged vestibular aqueduct; IVS7, intravening sequence7(intron 7); IVS9, intravening sequence9(intron 9); IVS5, intravening sequence5(intron 5); IVS11, intravening sequence11(intron 11); WT, wildtype.