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Representative Families from cohort with the digenic variants in both GJB2 and GJB6. (a) Compound heterozygous state in simplex and multiplex families with HL. (b) Simplex family with a 2bp frameshift deletion without GJB2 mutations that may not be the cause of HL. (c) Families requiring testing of additional members for result interpretation in proband. GJB6 del = del(GJB6‐D13S1830)
