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Mutations of the CDH23 gene identified in this study
| Patient | Sex/age | Classification | Nucleotide changea | Amino acid changeb | Inheritance pattern |
|---|---|---|---|---|---|
| SH59-133 | F/3 | Children | c.C719T; c.C4853A | p.P240L; p.T1618K | Compound heterozygote |
| SH97-211 | F/1 | Children | c.C719T | p.P240L | Homozygote |
| SH164-359 | F/1 | Children | c.C719T | p.P240L | Homozygote |
| SB56-103 | F/4 | Children | c.C719T; c.8574delC | p.P240L;p.Asp2858GlufsX8 | Compound heterozygote |
