Gene   Mutation             Location              Reference
----   --------   -----------------------------   ---------
Cx46   1137insC   C-terminal cytoplasmic tail       [19]
       N63S       First extracellular loop          [19]
       P187L      Second extracellular loop         [18]
       F32L       First transmembrane domain        [14]
       P59L       First extracellular loop          [17]
       R76H       First extracellular loop or       [16]
                  second transmembrane domain
       N188T      Second extracellular loop         [15]
       R76G       First extracellular loop          [20]
       V28M       First transmembrane domain        [20]

Cx50   P88S       Second transmembrane domain       [23]
       E48K       First extracellular loop          [22]
       I247M      C-terminal cytoplasmic tail       [21]
       R23T       N-terminal cytoplasmic tail       [24]