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Table 2 Genotypes of SLC26A4 gene-related hearing impairment in typical Chinese areas

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

Allele 1 Allele 2 Number of patients
Nucleotide Change Amino acid change Category Nucleotide change Amino acid change Category  
c.IVS7-2A>G aberrant splicing Pathogenic c.IVS7-2A>G Aberrant splicing Pathogenic 16 EVA
c.2168A>G H723R Pathogenic c.2168A>G H723R Pathogenic 1 EVA
c.1174A>T N392Y Pathogenic c.1174A>T N392Y Pathogenic 1 EVA
c.IVS7-2A>G aberrant splicing Pathogenic c.230A>T K77I Pathogenic 1 EVA
c.IVS7-2A>G aberrant splicing Pathogenic c.1229C>T bT410M Pathogenic 1 EVA
c.IVS7-2A>G aberrant splicing Pathogenic c.1975G>C bV659L Pathogenic 1 EVA
c.IVS7-2A>G aberrant splicing Pathogenic c.2168A>G H723R Pathogenic 3 EVA
c.2168A>G H723R Pathogenic c.109G>T E37X, nonsense mutation Pathogenic 1 EVA
c.2168A>G H723R Pathogenic c.1229C>T bT410M Pathogenic 1 EVA
c.2168A>G H723R Pathogenic c.2167C>G H723D Unclassified variant 1 EVA
c.1173C>A S391R Pathogenic c.1229C>T bT410M Pathogenic 1 EVA
c.1124A>G Y375C Unclassified variant c.1409G>A R470H Unclassified variant 1 Vestibular and cochlear malformation
c.1472T>C I491T Unclassified variant     1 EVA and Mondini
c.IVS7-2A>G aberrant splicing Pathogenic     8 EVA
c.2168A>G H723R Pathogenic     1 EVA
c.IVS7-2A>G aberrant splicing Pathogenic c.1905G>A E635E Silent
variant
1 ND
c.1174A>T N392Y Pathogenic     1 ND
c.IVS7-2A>G aberrant splicing Pathogenic     8 nl
c.2168A>G H723R Pathogenic     2 nl
c.1790T>C L597S Unclassified variant     1 nl
c.1975G>C bV659L Pathogenic     1 nl
c.757A>G I253V Unclassified variant     1 nl
c.200C>G T67S Unclassified variant     1 nl
c.IVS12-6i nsT Intron insertion Unclassified variant     1 nl
c.225C>G L75L Silent variant     1 ND
c.678T>C A226A Silent variant     1 nl
c.1905G>A E635E Silent variant     1 nl
  1. nl, normal; EVA, enlarged vestibular aqueduct; ND, not determined; NA, not available; IVS7, intravening sequence 7 (intron 7); IVS12, intravening sequence 12 (intron 12).