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Characteristics of VHL mutations
| Exon 1 | Exon 2 | Exon 3 | Type of mutation |
|---|---|---|---|
| c. 349T>A(TGG>AGG) | Missense | ||
| c. 412C>G(CCA>GCA) | Missense | ||
| c. 485G>A(TGC>TAC) | Missense | ||
| c. 515C>T(CCT>CTT) | Missense | ||
| c. 548C>A(TCG>TAG) | Missense | ||
| c. 607C>A(CAG>AAG) | Missense | ||
| Del415416>TC | Frameshift | ||
| Del358361>AGAG | Frameshift | ||
| c. 484T>C(TGC>CGC) | Missense | ||
| c. 101G>A(GGC>GAC) | Missense | ||
| c. 545G>A(AGG>AAG) | Missense |
VHL: Von Hippel-Lindau.
