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