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Table 3 SLC26A4 mutation spectrum in patients with EVA from south China

From: Developing regional genetic counseling for southern Chinese with nonsyndromic hearing impairment: a unique mutational spectrum

Allele 1 Allele 2 No.
Nucleotide AA change Nucleotide AA change
c.IVS7-2A > G Splice site c.IVS7-2A > G Splice site 29
c.IVS7-2A > G Splice site c.2086C > T p.Q696Stop 5
c.IVS7-2A > G Splice site c.2168A > G p.H723R 5
c.IVS7-2A > G Splice site c.1229C > T p.T410M 9
c.IVS7-2A > G Splice site c.2000 T > C p.F667S 1
c.IVS7-2A > G Splice site c.1691insA Frameshift 3
c.IVS7-2A > G Splice site c.1343C > T p.S448L 3
c.IVS7-2A > G Splice site c.754 T > C p.S252P 4
c.IVS7-2A > G Splice site c.1369A > T p.N457Y 1
c.IVS7-2A > G Splice site c.1079C > T p.A360V 4
c.IVS7-2A > G Splice site c.1540C > T p.Q514Stop 2
c.IVS7-2A > G Splice site c.1919G > A p.W641Stop 2
c.IVS7-2A > G Splice site c.IVS14-2A > G Splice site 1
c.IVS7-2A > G Splice site c.422 T > C p.F141S 1
c.IVS7-2A > G Splice site c.259G > T p.D87Y 1
c.754 T > C p.S252P c.754 T > C p.S252P 1
c.754 T > C p.S252P c.2168A > G p.H723R 1
c.754 T > C p.S252P c.1229C > T p.T410M 1
c.1229C > T p.T410M c.1229C > T p.T410M 1
c.1229C > T p.T410M c.1547insC Frameshift 3
c.1229C > T p.T410M c.259G > T p.D87Y 3
c.1229C > T p.T410M c.2086C > T p.Q696Stop 2
c.1229C > T p.T410M c.679G > C p.A227P 1
c.589G > A p.G197R c.1547insC Frameshift 1
c.2086C > T p.Q696Stop c.2086C > T p.Q696Stop 1
c.2168A > G p.H723R c.2168A > G p.H723R 3
c.2168A > G p.H723R c.1975G > C p.V659L 1
c.754 T > C p.S252P c.1975G > C p.V659L 1
c.1975G > C p.V659L c.2086C > T p.Q696Stop 1