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Fig. 2 | BMC Medical Genetics

Fig. 2

From: Genotype-phenotype correlation analysis of MYO15A variants in autosomal recessive non-syndromic hearing loss

Fig. 2

Overview of known MYO15A variants and related hearing phenotypes. The blue words indicate variants associated with milder auditory phenotypes, the red words indicate variants associated with reported both severe and milder phenotypes. In addition, variants without reported hearing loss phenotypes are expressed in brown words. Sixteen red stars indicate novel variants of MYO15A in this study, and eleven black stars show previously reported variants of MYO15A in this study. a Except for splice site variants of MYO15A, 159 MYO15A variants with reported hearing phenotypes were noted above the schematic diagram, 52 variants without reported hearing phenotypes were listed under it. b Thirty-eight splice site variants of MYO15A were indicated on the border between the exons flanking and affected introns. The pathogenicity of p.Ser3474Gly is ambiguous, so it is not listed here. c The number of identified MYO15A variants with two different auditory phenotypes in every affected domain is displayed

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