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. 2021 Nov 30;9:734300. doi: 10.3389/fped.2021.734300

Table 4.

Prevalence of hearing loss-associated mutations in this study, genomAD and ChinaMAP.

Mutation positive This study gnomAD, % ChinaMAP
East Asian South Asian European (Non-finnish) Ashkenazi Jewish Latino
GJB2 (NM_004004.5)
c.235de1C 80 (0.8) 0.7 0 0 0 0 0.8
c.299_300de1AT 18 (0.2) 0.1 0 0 0 0 0.1
c.176_191del16 4 (0.04) 0.02 0 0 0 0 No data
GJB3 (NM_024009.3)
c.538C>T 2 (0.02) 0.1 0 0 0 0 0.09
c.547G>A 3 (0.03) 0.05 0 0 0 0.4 0.08
SLC26A4 (NM_000441.2)
c.919-2A>G 49 (0.5) 0.5 0 0 0 0 0.6
c.1229C>T 20 (0.2) 0.04 0.06 0.01 0.01 0.01 0.05
c.754T>C 14 (0.1) 0.01 0 0 0 0 0.005
c.1707+5G>A 4 (0.04) 0.01 0 0 0 0 0.005
c.2168 A>G 4 (0.04) 0.2 0 0 0 0 0.1
c.1975G>C 5 (0.04) 0.02 0 0 0 0 0.04
c.1174 A>T 3 (0.03) 0.01 0 0 0 0 0.01
c.1226 G>A 1 (0.01) 0.1 0.01 0.01 0 0.02 0.02
c.2162C>T 1 (0.01) 0 0 0 0 0.03 No data
c.749T>C 1 (0.01) No data No data No data No data No data No data
MT-RNR1 (NC_012920.1)
m.1555A>G 15 (0.2) No data No data No data No data No data No data
m.1494C>T 3 (0.03) No data No data No data No data No data No data