Table 1 The results of Sanger sequencing
Gene | Mutation location | Gene subregion | HGVS | Heterozygosity |
|---|---|---|---|---|
SLC26A4 | chr7:107,690,148 | exon10 | NM_000441.2:c.1174 A > T:p.N392Y | Proband: Heterozygous Mother: Heterozygous Father: wild |
SLC26A4 | chr7:107,704,365 | exon18 | NM_000441.2:c.2069 T > A:p.V690E | Proband: Heterozygous Father: Heterozygous Mother: wild |