Table 2. Characteristics of the identified variants in the study.
| Gene | Transcript ID | cDNA | Protein | Mutation Type | MT | Polyphen2 score/ranking | SIFT | ExAC* , # (Overall Allele frequency) | Reference |
|---|---|---|---|---|---|---|---|---|---|
| MYO7A | NM_000260 | c.487G>A | p.G163R | M | DC | 1.000/PD | D | - | Known 24 |
| MYO7A | NM_000260 | c.735G>A | - | S | DC | NA | NA | - | Novel |
| MYO7A | NM_000260 | c.6337G>C | p.A2113P | M | DC | 0.980/PD | D | - | Novel |
| MYO7A | NM_000260 | c.6487G>A | p.G2163S | M | DC | 1.000/PD | D | 0.00003312 | Known 23 |
| TMC1 | NM_138691 | c.534A>C | p.E178D | M | DC | 0.992/PD | T | - | Novel |
| TMC1 | NM_138691 | c.2050G>A | p.D684N | M | DC | 0.944/PsD | T | 0.00001647 | rs563322370 |
| MYO15A | NM_016239.3 | c.4642G>A | p.A1548T | M | DC | 1.000/PD | D | 0.00003318 | rs201067821 |
| MYO15A | NM_016239.3 | c.5212-2A>G | - | S | DC | NA | NA | - | rs200760936 |
| MARVELD2 | NM_001038603.2 | c.1331+2T>C | - | S | DC | NA | NA | 0.00004119 | Known 31 |
| TMIE | NM_147196 | c.250C>T | p.R84W | M | DC | 1.000/PD | D | 0.00001658 | Known 34 , rs28942097 |
| DFNB31 | NM_015404.3 | c.302C>T | p.S101F | M | DC | 1.000/PD | D | - | Novel |
| LOXHD1 | NM_144612 | c.71delT | p.L24RfsX74 | F | DC | NA | NA | 0.00005042 | Novel |
| GPSM2 | NM_013296 | c.832C>T | p.R278X | NS | DC | NA | NA | 0.00002473 | Novel |
| USH1G | NM_173477.2 | c.355T>C | p.S119P | M | DC | 0.994/PD | D | - | Novel |
| CDH23 | NM_022124.5 | c.5545C>G | p.P1849A | M | DC | 1.000/PD | D | - | Novel |
| GJB2 | NM_004004.5 | c.35delG | p.G12VfsX2 | F | DC | NA | NA | 0.00604 | rs80338939 |
| GJB2 | NM_004004.5 | c.299_300delAT | p.H100RfsX14 | F | DC | NA | NA | 0.00004124 | rs111033204 |
| GJB2 | NM_004004.5 | c.333_334delAA | p.K112EfsX2 | F | DC | NA | NA | - | Known 16 |
* Exome Aggregation Consortium (http://exac.broadinstitude.org)
# The allele frequency in the ExAC database does not contain representative controls for all ethnic groups.
M: Missense, S: Splice site, F: Frameshift, NS: Nonsense, MT: MutationTaster, DC: Disease causing, PD: Probably Damaging, PsD: Possibly Damaging, D: Damaging, T: Tolerated, NA: Not available