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. 2016 Mar 28;11(3):e0151909. doi: 10.1371/journal.pone.0151909

Table 4. Genotypes of patients harboring mutations in multiple autosomal-recessive inherited genes.

Allele 1 Allele 2 No. of subjects
Gene Nucleotide change Amino acid change Pathogenic type Gene Nucleotide change Amino acid change Pathogenic type
GJB2 c.608T>C p.Ile203Thr R SLC26A4 c.IVS7_2A>G Aberrant splicing P/E/R 1
GJB2 c.368C>A p.Thr123Asn R SLC26A4 c.IVS7_2A>G Aberrant splicing P/E/R 1
GJB2 c.608T>C p.Ile203Thr R SLC26A4 c.1975G>C p.Val659Leu R 1
GJB2 c.368C>A p.Thr123Asn R MYO3A c.IVS8_2A>G Aberrant splicing R 1
GJB2 c.608T>C p.Ile203Thr R MYO3A c.IVS8_2A>G Aberrant splicing R 1
GJB2 c.235delC Frameshift R PCDH15 c.400C>G p.Arg134Gly R 1
CDH23 c.2968G>A p.Asp990Asn R SLC26A4 c.IVS7_2A>G Aberrant splicing P/E/R 2
CDH23 c.2968G>A p.Asp990Asn R PCDH15 c.400C>G p.Arg134Gly R 1
CDH23 c.6823G>A p.Arg2608His R OTOF c.IVS28_2A>C Aberrant splicing R 1
Total 10