Table 2. Mutation list of Invader based genetic screening test.
| Gene | Exon | Codon location | Nucleotide change | Frequency of mutant alleles (n = 528) | Number of patients with mutations (n = 264) |
| GJB2 | exon 2 | p.L79fs | c.235delC | 43 (8.1%) | 29 (10.9%) |
| GJB2 | exon 2 | p.V37I | c.109G>A | 7 (1.3%) | 6 (2.3%) |
| GJB2 | exon 2 | p.[G45E; Y136X] | c.[134G>A; 408C>A] | 10 (1.9%) | 10 (3.8%) |
| GJB2 | exon 2 | p.G59fs | c.176_191del | 3 (0.6%) | 3 (1.1%) |
| GJB2 | exon 2 | p.R143W | c.427C>T | 4 (0.8%) | 4 (1.5%) |
| GJB2 | exon 2 | p.H100fs | c.299_300del | 5 (0.9%) | 5 (1.9%) |
| GJB2 | exon 2 | p.T123N | c.368C>A | 4 (0.8%) | 4 (1.5%) |
| GJB2 | exon 2 | p.T86R | c.257C>G | 1 (0.2%) | 1 (0.4%) |
| GJB2 | exon 2 | p.F191L | c.570T>C | 0 | 0 |
| GJB2 | exon 2 | p.I71T | c.212T>C | 0 | 0 |
| GJB2 | exon 2 | p.A49V | c.146C>T | 0 | 0 |
| GJB2 | exon 2 | p.G12fs | c.35delG | 0 | 0 |
| SLC26A4 | exon 19 | p.H723R | c.2168A>G | 22 (4.1%) | 17 (6.4%) |
| SLC26A4 | int 7/exon 8 | splice site | c.919-2A>G | 2 (0.4%) | 2 (0.8%) |
| SLC26A4 | exon 7 | p.T410M | c.1229C>T | 4 (0.8%) | 3 (1.1%) |
| SLC26A4 | exon 7 | p.V306fs | c.917insG | 0 | 0 |
| SLC26A4 | exon 19 | p.T721M | c.2162C>T | 0 | 0 |
| SLC26A4 | exon 8/int 8 | splice site | c.1001+1G>A | 0 | 0 |
| SLC26A4 | exon 9 | p.A372V | c.1115C>T | 0 | 0 |
| SLC26A4 | exon 5 | p.M147V | c.439A>G | 1 (0.2%) | 1 (0.4%) |
| SLC26A4 | int 5/exon 6 | splice site | c.601-1G>A | 0 | 0 |
| SLC26A4 | exon 9 | p.K369E | c.1105A>G | 1 (0.2%) | 1 (0.4%) |
| SLC26A4 | exon 15 | p.S551fs | c.1652insT | 1 (0.2%) | 1 (0.4%) |
| SLC26A4 | exon 15 | p.C565Y | c.1693G>A | 0 | 0 |
| SLC26A4 | exon 17 | p.S666F | c.1997C>T | 0 | 0 |
| SLC26A4 | exon 19 | p.E704fs | 2111ins GCTGG | 1 (0.2%) | 1 (0.4%) |
| SLC26A4 | exon 4 | p.L108fs | c.322delC | 0 | 0 |
| SLC26A4 | exon 4 | p.P123S | c.367C>T | 0 | 0 |
| SLC26A4 | exon 10 | p.N392Y | c.1174A>T | 0 | 0 |
| SLC26A4 | exon 17 | p.S610X | c.1829C>A | 0 | 0 |
| SLC26A4 | exon 17 | p.S657N | c.1970G>A | 0 | 0 |
| EYA1 | exon 12 | p.D396G | c.1187A>G | 0 | 0 |
| EYA1 | exon 8 | p.R264X | c.790C>T | 0 | 0 |
| EYA1 | exon 7 | p.Y193X | c.579C>G | 0 | 0 |
| COCH | exon 5 | p.A119T | c.441G>A | 0 | 0 |
| KCNQ4 | exon 5 | p.W276S | c.827G>C | 0 | 0 |
| MYO7A | exon22 | p.A886fs | c.2656_2664del | 0 | 0 |
| TECTA | exon 16 | p.R1773X | c.5318C>T | 0 | 0 |
| TECTA | exon 20 | p.R2121H | c.6063G>A | 0 | 0 |
| Mitochondrial 12S rRNA | m.1555A>G | - | 5 (1.9%) | ||
| Mitochondrial tRNALeu | m.3243A>G | - | 6 (2.3%) | ||
| Mitochondrial tRNASer | m.7445A>G | - | 0 | ||
| Mitochondrial tRNALys | m.8296 A>G | - | 0 | ||
| CRYM | exon 8 | p.K314T | c.941 A>C | 0 | 0 |
| CRYM | exon 8 | p.X315Y | c.945 A>T | 0 | 0 |