Table 2. Genetic analysis of Korean patients with CHARGE syndrome.
| Patient No. | Clinical diagnosis | Mutation (Nucleotide) | Mutation (Protein) | Type | In-vitro splicing assay | In-silico assay | Ref |
| 1 | Typical | c.921–922delAG | p.G308AfsX9 | Frameshift | (20) | ||
| 2 | Atypical | c.7331T>A | p.L2444X | Nonsense | Novel | ||
| 3 | Atypical | c.6193C>A | p.R2065S | Missense | Novel | ||
| 4 | Atypical | c.6832insC | p.T2278HfsX3 | Frameshift | Novel | ||
| 5 | Atypical | c.5210+5G>C | Splice site | Exon 23 skipping | Deterioration of splicing donor site | Novel | |
| 6 | Typical | c.222delG | p.Q74HfsX9 | Frameshift | Novel | ||
| 7 | Typical | c.5405-7G>A | Splice site | Insertion of 5bp at cryptic acceptor site | New cryptic splicing site | (20–21) | |
| 8 | Typical | - | - | - | |||
| 9 | Atypical | c.1465C>T | p.Q489X | Nonsense | (20) |