Table 4 The missense mutation of exon 19 of the SLC26A4 gene with clinical phenotype as pathogenicity
Nucleotide change | Protein change | Variant classification | Phenotype | Protein position | Consequence |
|---|---|---|---|---|---|
c.2141G > A | p.Arg714Lys | Pathogenic | Hearing loss | 714 | missense_variant |
c.2145G > T | p.Lys715Asn | Pathogenic | Hearing loss | 715 | missense_variant |
c.2153 T > C | p.Phe718Ser | Pathogenic | Enlarged vestibular aqueduct | 718 | missense_variant |
c.2162C > T | p.Thr721Met | Pathogenic | Deafness, non-syndromic, autosomal recessive | 721 | missense_variant |
c.2167C > G | p.His723Asp | Pathogenic | Deafness, non-syndromic, autosomal recessive | 723 | missense_variant |
c.2167C > T | p.His723Tyr | Pathogenic | Enlarged vestibular aqueduct | 723 | missense_variant |
c.2168A > G | p.His723Arg | Pathogenic | Pendred syndrome | 723 | missense_variant |
c.2170G > A | p.Asp724Asn | Pathogenic | Pendred syndrome | 724 | missense_variant |
c.2171A > G | p.Asp724Gly | Pathogenic | Deafness, non-syndromic, autosomal recessive | 724 | missense_variant |
c.2173G > C | p.Ala725Pro | Pathogenic | Pendred syndrome/DFNB4 | 725 | missense_variant |
c.2179C > T | p.Leu727Phe | Pathogenic | Enlarged vestibular aqueduct | 727 | missense_variant |
c.2182 T > C | p.Tyr728His | Pathogenic | Deafness, non-syndromic, autosomal recessive | 728 | missense_variant |
c.2219G > T | p.Gly740Val | Pathogenic | Enlarged vestibular aqueduct | 740 | missense_variant |