| Gene | Phenotype | Mutation | In vitro studies | Pathogenicity | in vivo studies | Animal model hearing phenotype |
|---|---|---|---|---|---|---|
| TBL1Y | HHL | Missense | + | high | NA | NA |
| PLS1 | HHL | Nonsense | NA | NA | + | in progress |
| SPATC1L | HHL/ARHL | Missense/Nonsense | + | high | NA | NA |
| SLC9A3R1 | ARHL | Missense | + | moderate | + | yes |
| SLC44A2 | ARHL | Missense | + | moderate | + | in progress |
| SLC28A3 | ARHL | Nonsense | + | high | + | in progress |
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