35delG
| Mild to profound, with most patients showing severe or profound hearing impairment | No expression |
41
|
IVS1+1G>A
| Significantly less severe compared with 35delG | No expression |
42
|
V37I
| Significantly less severe compared with 35delG | Complete loss of channel activity |
43
|
W77R
| No significant difference compared with 35delG | Complete loss of channel activity |
43–
46
|
V84L
| Possibly associated with less severe hearing impairment | Conductance similar to wild-type CX26 |
43,
47
|
L90P
| Significantly less severe compared with 35delG | Complete loss of channel activity |
41,
43,
48
|
V95M
| No significant difference compared with 35delG | Conductance similar to wild-type CX26 |
47
|
delE120
| Significantly less severe compared with 35delG | Complete loss of channel activity |
43
|
R143W
| No significant difference compared with 35delG | Conductance similar to wild-type CX26 |
47
|
R184P
| No significant difference compared with 35delG | Complete loss of channel activity |
43,
48
|