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

Table 5. Genotypes of patients harboring mutations in autosomal-dominant inherited genes.

Gene Allele 1 Allele 2 No. of patients Frequency
Nucleotide change Amino acid change Pathogenic type Nucleotide change Amino acid change Pathogenic type
KCNQ4 c.546C>G p.Phe182Leu D —— —— —— 4 36.36%
WFS1 c.1846G>T p.Ala616Ser D —— —— —— 3 27.27%
TECTA c.249C>T p.Thr83Met D —— —— —— 2 18.18%
MYH9 c.2114G>A p.Arg705His D —— —— —— 2 18.18%
Total 11 100.00%

D: autosomal dominant inheritance.