Gene | Mutations analyzed | Techniques used to validate |
---|---|---|
GJB2 | p.N206S; p.E147K; p.W24X, c.167delT; c.235delC; p.V95M; p.S113R; p.M93I; p.E129K; p.V37I; p.L90P; p.R184P; p.W172X; p.R75Q; p.M34T; p.V153I; p.K168R; c.35delG; p.R184W | Direct sequencing |
GJB6 | c.6013G > T | Multiplex PCR |
miR96/183 | c.13G > A; c.14C > A | Direct sequencing |
MT-RNR1 | m.1555A > G | RFLP-PCR |
m.1494C > T | RFLP-PCR | |
MT-TS1 | m.7445A > G | RFLP-PCR |
SLC26A4 | p.G149R; p.Q413R; p.V609G | Direct sequencing |
OTOF | p.Q829X | RFLP-PCR |
TMC1 | p.S647P | Direct sequencing |
CRYL1 | c.1622 T > C | Direct sequencing |