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# Table 3 Distribution of SLC26A4 genotypes in patients with different CT scan phenotype

CT phenotype | Patient number | Genotype of | |||
---|---|---|---|---|---|

Â | Â | allele 1 | allele 2 | ||

Â | Â | nucleotide change | amino acid change | nucleotide change | amino acid change |

| 1 | c.919-2 A>G[21] | aberrant splicing | - | - |

| 2-28 | - | - | - | - |

| 29 | c.919-2 A>G | aberrant splicing | - | - |

| 30 | 1286C>A (this study) | A429E | - | - |

Â | 31-44 | - | - | - | - |

| 45 | c.917insG(6) | Frameshift | - | - |

| 46-57 | c.919-2 A>G | aberrant splicing | c.919-2 A>G | aberrant splicing |

Â | 58 | c.1226G>A[22] | R409H | c.1226G>A | R409H |

Â | 59 | c.919-2 A>G | aberrant splicing | c.1520delT(this study) | Frameshift |

Â | 60 | c.919-2 A>G | aberrant splicing | c.1343C>A[23] | S448* |

Â | 61 | c.1174A>T[24] | N392Y | c.1975G>C[25] | V659L |

Â | 62-65 | c.919-2 A>G | aberrant splicing | c.2168A>G[21] | H723R |

Â | 66 | c.1229C>T[26] | T410M | c.1079C>T[27] | A360V |

Â | 67 | c.2027T>A[23] | L676Q | c.ivs15+5G>A[26] | aberrant splicing |

Â | 68,69 | c.919-2 A>G | aberrant splicing | c.1229C>T | T410M |

Â | 70 | c.919-2 A>G | aberrant splicing | c.1829C>A[21] | S610* |

Â | 71,72 | c.919-2 A>G | aberrant splicing | c.1343C>T[23] | S448L |

Â | 73 | c.1229C>T | T410M | c.1594AG>T (this study) | SF532, 545* |

Â | 74,75 | c.919-2 A>G | aberrant splicing | c.1975G>C | V659L |

Â | 76,77 | c.919-2 A>G | aberrant splicing | c.946G>T(6) | G316X |

Â | 78 | c.919-2 A>G | aberrant splicing | c.ivs9+1G>A (this study) | aberrant splicing |

Â | 79,80 | c.919-2 A>G | aberrant splicing | c.1586T>G[23] | I529S |

Â | 81 | c.2168A>G | H723R | - | - |

Â | 82 | c.2168A>G | H723R | c.2168A>G | H723R |

Â | 83 | - | - | - | - |

Â | 84 | c.919-2 A>G | aberrant splicing | c.281C>T[23] | T94I |

Â | 85 | c.919-2 A>G | aberrant splicing | - | - |

Â | 86 | c.919-2 A>G | aberrant splicing | c.1318A>T[23] | K440* |

Â | 87 | c.919-2 A>G | aberrant splicing | c.563T>C(this study) | I188T |

Â | 88 | c.919-2 A>G | aberrant splicing | c.496delA (this study) | Frameshift |

Â | 89 | c.919-2 A>G | aberrant splicing | c.1318A>T | K440* |

Â | 90 | c.812A>G[23] | D271G | c.1225C>T (this study) | R409C |

Â | 91 | c.919-2 A>G | aberrant splicing | c.1548insC[26] | Frameshift |

Â | 92 | c.919-2 A>G | aberrant splicing | c.1173C>A (this study) | S391R |

Â | 93 | c.919-2 A>G | aberrant splicing | c.1174A>T | N392Y |

Â | 94 | c.2168A>G | H723R | c.2T>C[16] | M1T |

| 95 | - | - | - | - |

| 96-99 | c.919-2 A>G | aberrant splicing | c.2168A>G | H723R |

Â | 100-102 | c.919-2 A>G | aberrant splicing | c.589G>A[23] | G197R |

Â | 103 | c.2168A>G | H723R | c.1594AG>T | SF532, 545* |

Â | 104-115 | c.919-2 A>G | aberrant splicing | c.919-2 A>G | aberrant splicing |

Â | 116 | c.919-2 A>G | aberrant splicing | c.1238A>G[28] | Q413R |

Â | 117 | c.919-2 A>G | aberrant splicing | c.414delT (this study) | Frameshift |

Â | 118 | c.1229C>T | T410M | c.1343C>A | S448* |

Â | 119 | c.2168A>G | H723R | c.754T>C[26] | S252P |

Â | 120,121 | c.919-2 A>G | aberrant splicing | c.ivs13+9C>T[29] | aberrant splicing |

Â | 122,123 | c.919-2 A>G | aberrant splicing | c.1229C>T | T410M |

Â | 124 | c.1174A>T | N392Y | c.2027T>A | L676Q |

Â | 125-127 | c.919-2 A>G | aberrant splicing | c.1975G>C | V659L |

Â | 128 | c.2168A>G | H723R | c.1079C>T | A360V |

Â | 129,130 | c.919-2 A>G | aberrant splicing | c.2027T>A | L676Q |

Â | 131 | c.919-2 A>G | aberrant splicing | c.1340delA(this study) | Frameshift |

Â | 132 | c.1174A>T | N392Y | - | - |

Â | 133 | c.919-2 A>G | aberrant splicing | c.218delA(this study) | Frameshift |

Â | 134 | c.2168A>G | H723R | c.2086C>T(this study) | Q696* |

Â | 135 | c.ivs15+5G>A | aberrant splicing | c.1520delT | Frameshift |

Â | 136,137 | c.919-2 A>G | aberrant splicing | c.1226G>A | R409H |

Â | 138,139 | c.919-2 A>G | aberrant splicing | - | - |

Â | 140 | c.919-2 A>G | aberrant splicing | c.1991C>T(this study) | A664V |

Â | 140 | c.2168A>G | H723R | c.439A>G[21] | M147V |

Â | 140 | c.919-2 A>G | aberrant splicing | c.1594A>C[23] | S532R |

Â | 140 | c.919-2 A>G | aberrant splicing | c.ivs15+5G>A | aberrant splicing |

Â | 140 | c.1174A>T | N392Y | c.1174A>T | N392Y |