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 |