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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

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BMC Medical Genomics

ISSN: 1755-8794

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