Mutations in the TMPRSS3, TMC1, USH1C, CDH23 and TMIE genes.

a Allele frequency in the range of 0.000– 0.003 is observed for the variant in the dbSNP137 database. Gene sequence variants shown are either almost certainly pathogenic alleles, or bpotentially pathogenic. CC: coiled-coiled, C-TERM: C-Terminal, EC-LOOP: Extracellular loop, EC: Cadherin extracellular repeat domain, Hom: Homozygous, Het: Heterozygous, N-TERM: N-Terminal, PDZ: Post synaptic density protein-95, Drosophila disc large tumor suppressor, Zonula occludens-1 domain, PST: Proline-serine-threonine rich region, SRCR: scavenger receptor cysteine-rich, TM: Transmembrane domain.TMPRSS3: Gene ID: 64699; mRNA: NM_024022; Protein: NP_076927TMC1: Gene ID: 117531; mRNA: NM_138691; Protein; NP_619636USH1C: Gene ID: 10083; mRNA: NM_153676; Protein: NP_710142CDH23: Gene ID: 64072; mRNA: NM_022124.3; Protein: NP_071407.3TMIE: Gene ID: 259236; mRNA: NM_147196.1; Protein: NP_671729.