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Summary of the genetic test for VHL disease
| Total VHL families | 206 | |||
|---|---|---|---|---|
| Subtype of VHL disease | ||||
| 1 | 146 | |||
| 2A | 29 | |||
| 2B | 27 | |||
| 2C | 0 | |||
| NA | 4 | |||
| Results of genetic test | ||||
| Direct sequencing | 134 | |||
| MLPA | 41 | |||
| Negative (NVI) | 31 | |||
| Mutation type of VHL | ||||
| Missense | 84 | |||
| Nonsense | 20 | |||
| Large deletion | 41 | |||
| Frameshift | 16 | |||
| In-frame indel | 9 | |||
| Splice site | 3 | |||
| Others | 2 | |||
| 175 | ||||
