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Table 3 The variant information of SLC26A4 c.2168A > G and c.2029C > T

From: A newly identified mutation (c.2029 C > T) in SLC26A4 gene is associated with enlarged vestibular aqueducts in a Chinese family

Nucleotide change Amino acid change chromosomal location rs-numbers Population frequency (GnomAD) (‰)
c.2168 A > G p. His723Arg Chr7:107350577 rs121908362 0.113
c.2029 C > T p. Arg677Trp Chr7:107342497 rs397516426 0.0460