Results of mutation analysis of the BHD gene
| Patient | Location | Mutation | Predicted result |
|---|---|---|---|
| Nucleotides are numbered according to the GenBank (AF517523, mRNA sequence of the BHD gene). Nucleotide 456 corresponds to the A of the ATG initiation codon that locates in exon 4. | |||
| B1 | Exon 13 | nt1988 del GATG | Frameshift, protein truncation |
| B2 | Exon 11 | nt1733 ins C | Frameshift, protein truncation |
| B3 | Exon 6 | nt857 del C | Frameshift, protein truncation |
| B6 | Intron 5 | nt852 -1 del gtccctccag | Exon 6 skipping, resulting in an in-frame deletion of 74 amino acids. |
| B7 | Exon 12 | nt1795 ins CCACCCT | Frameshift, protein truncation |