Table 4.
GJB2 mutation | Effect | Genotype/Frequency (%) | Allele frequency | ||||
---|---|---|---|---|---|---|---|
Wild | Heterozygous | Homozygous | Total affected | ||||
c.35delG | frame shift | 20 (21.1%) | 40 (42.1%) | 35 (36.8%) | 75 (78.9%) | 0.42% | |
c.235delC | frame shift | 42 (44.2%) | 33 (34.7%) | 20 (21.1%) | 53 (55.8%) | 0.61% | |
c.167delT | frame shift | Not detected | - |