Table 1.
The results of mutation analysis of the FLCN gene
| Patient | Location | Mutation | Predicted results |
| JBR4 | Exon 10 | c.1063-10_1065delTCTTGTTTAGGTC | Exon 10 skip (38 amino acid in-frame deletion) |
| JBR7 | Exon 10 | c.1063-10_1065delTCTTGTTTAGGTC | Exon 10 skip (38 amino acid in-frame deletion) |
| JBR8 | Exon 13 | c.1533G→A (W511X) | Protein truncation |
| JBR9 | Exon 12 | c.1347_1353dupCCACCCT | Frame shift, protein truncation |
| JBR10 | Exon 7 | c.769_771delTCC | In-frame deletion |
| JBR11 | Exon 9 | c.887C→A (S296X) | Protein truncation |
| JBR12 | Exon 13 | c.1533_1536delGATG | Frame shift, protein truncation |
| JBR13 | Exon 13 | c.1433-1G→T | Exon 13 skip (frame shift, protein truncation) |
| JBR14 | Exon 9 ∼ 14 | c.872-?_c.1740+?del | Protein truncation |
| JBR15 | Exon 12 | c.1347_1353dupCCACCCT | Frame shift, protein truncation |
| JBR16 | Exon 12 | c.1347_1353dupCCACCCT | Frame shift, protein truncation |
| JBR17 | Exon 10 | c.1063-2A→G | Exon 10 skip (38 amino acid in-frame deletion) |
| JBR18 | Exon 14 ∼ | c.1539-?_c.1740+?del | Protein truncation |
| JBR19 | Exon 6 | c.[564_565dupCC;566_577delTGCTGGGGAAGG] | Frame shift, protein truncation |
| JBR20 | Exon 5 | c.328C→T (Q110X) | Protein truncation |
| JBR21 | Exon 12 | c.1347_1353dupCCACCCT | Frame shift, protein truncation |
| JBR22 | Exon 12 | c.1347_1353dupCCACCCT | Frame shift, protein truncation |
| JBR23 | Exon 6 | c.397-7_399delCCTCCAGGTC | Exon 6 skip (74 amino acid in-frame deletion) |
| JBR24 | Exon 13 | c.1533_1536delGATG | Frame shift, protein truncation |
| JBR25 | Exon 12 | c.1347_1353dupCCACCCT | Frame shift, protein truncation |
| JBR26 | Exon 12 | c.1347_1353dupCCACCCT | Frame shift, protein truncation |
| JBR27 | Exon 12 | c.1347_1353dupCCACCCT | Frame shift, protein truncation |
| JBR28 | Exon 9 | c.997_998dupTC | Frame shift, protein truncation |
| JBR29 | Exon 11 | c.1177-5_1177-3delCTC | Exon 11 skip (frame shift, protein truncation) |
| JBR30 | Exon 7 | c.769-771delTCC | In-frame deletion |