Variant | Codon number | Exon number | Phenotype | Reference | Population |
---|---|---|---|---|---|
p.Leu16Pro | 16 | 4 | Prelingual HL | Du (2008) [22] | Iranian |
p.Ala29Serfs*54 | 29 | 4 | NA | Ahmed (2008) [21] | Turkish |
p.Met34Ilu | 34 | 5 | HL, non-syndromic | Babanejad (2012) [28] | Iranian |
p.Ser35Serfs*13 | 35 | 5 | Sensorineural HL | Vanwesemael (2011) [51] | Iranian |
p.Glu40Asp | 40 | 5 | Prelingual profound HL | Babanejad (2012) [28] | Iranian |
p.Arg41Trp | 41 | 5 | NA | Babanejad (2012) [28] | Iranian |
p.Arg52Trp | 52 | 5 | Non-syndromic HL | Wang (2017) [52] | Pakistani |
p.Arg54Gln | 54 | 5 | Prelingual moderate | Ichinose (2015) [53] | Japanese |
p.Arg70X | 70 | 5 | Non-syndromic HL | Riahi (2014) [54] | Iranian |
p.Tyr71X | 71 | 5 | Prelingual HL | Du (2008) [22] | Iranian |
p.Glu80Asp | 80 | 5 | Non-syndromic HL | Babanejad (2012) [28] | Iranian |
p.Arg81Gln | 81 | 5 | Non-syndromic HL | Ahmed (2008) [21] | Tunisian |
p.Arg81Trp | 81 | 5 | Non-syndromic HL | Babanejad (2012) [28] | Iranian |
p.Phe83Lue | 83 | 5 | NA | Marková (2016) [55] | Czech |
p.Trp105Arg | 105 | 5 | Non-syndromic HL | Ahmed (2008) [21] | Tunisian |
p.Glu110Lys | 110 | 5 | Non-syndromic HL | Ahmed (2008) [21] | Tunisian |
p.Tyr111X | 111 | 5 | Non-syndromic HL | Du (2008) [22] | Iranian |
p.Ala170Alafs*20 | 170 | 6 | Non-syndromic HL | This study | Iranian |
p.Ilu188Thrfs*7 | 188 | 7 | Prelingual moderate | Ichinose (2015) [53] | Japanese |
p.Arg219X | 219 | 7 | Severe-profound NSHL | Sloan-Heggen (2016) [56] | Not defined |