Table 1. The mutations found by the 1st and 2nd screenings in this study.
| Patients | Gene | Nucleotide Change1 | Nucleotide Change2 | Amino acid Change1 | Amino acid Change2 |
|---|---|---|---|---|---|
| 1st screening | |||||
| 1008 | GJB2 | c.235delC | c.[134G>A; 408C>A] | p.L79fs | p.[G45E; Y136X] |
| 794 | GJB2 | c.235delC | c.[134G>A; 408C>A] | p.L79fs | p.[G45E; Y136X] |
| 392 | GJB2 | c.427C>T | c.427C>T | p.R143W | p.R143W |
| 1005 | GJB2 | c.109G>A | c.109G>A | p.V37I | p.V37I |
| 505 | Mitochondria | m.3243A>G | — | — | — |
| 945 | Mitochondria | m.3243A>G | — | — | — |
| 508 | Mitochondria | m.1555A>G | — | — | — |
| 18 | Mitochondria | m.1555A>G | — | — | — |
| 2nd screening | |||||
| 982 | KCNQ4 | c.211delC | — | p.Q71fs | — |
| 38 | KCNQ4 | c.211delC | — | p.Q71fs | — |
| 780 | KCNQ4 | c.211delC | — | p.Q71fs | — |
| 485 | KCNQ4 | c.229_230insGC | — | p.H77fs | — |
| 416 | WFS1 | c.2590G>A | — | p.E864K | — |