Table 1

The results of mutation analysis of the FLCN gene

PatientLocationMutationPredicted results
JBR4Exon 10c.1063-10_1065delTCTTGTTTAGGTCExon 10 skip (38 amino acid in-frame deletion)
JBR7Exon 10c.1063-10_1065delTCTTGTTTAGGTCExon 10 skip (38 amino acid in-frame deletion)
JBR8Exon 13c.1533G→A (W511X)Protein truncation
JBR9Exon 12c.1347_1353dupCCACCCTFrame shift, protein truncation
JBR10Exon 7c.769_771delTCCIn-frame deletion
JBR11Exon 9c.887C→A (S296X)Protein truncation
JBR12Exon 13c.1533_1536delGATGFrame shift, protein truncation
JBR13Exon 13c.1433-1G→TExon 13 skip (frame shift, protein truncation)
JBR14Exon 9 ∼ 14c.872-?_c.1740+?delProtein truncation
JBR15Exon 12c.1347_1353dupCCACCCTFrame shift, protein truncation
JBR16Exon 12c.1347_1353dupCCACCCTFrame shift, protein truncation
JBR17Exon 10c.1063-2A→GExon 10 skip (38 amino acid in-frame deletion)
JBR18Exon 14 ∼c.1539-?_c.1740+?delProtein truncation
JBR19Exon 6c.[564_565dupCC;566_577delTGCTGGGGAAGG]Frame shift, protein truncation
JBR20Exon 5c.328C→T (Q110X)Protein truncation
JBR21Exon 12c.1347_1353dupCCACCCTFrame shift, protein truncation
JBR22Exon 12c.1347_1353dupCCACCCTFrame shift, protein truncation
JBR23Exon 6c.397-7_399delCCTCCAGGTCExon 6 skip (74 amino acid in-frame deletion)
JBR24Exon 13c.1533_1536delGATGFrame shift, protein truncation
JBR25Exon 12c.1347_1353dupCCACCCTFrame shift, protein truncation
JBR26Exon 12c.1347_1353dupCCACCCTFrame shift, protein truncation
JBR27Exon 12c.1347_1353dupCCACCCTFrame shift, protein truncation
JBR28Exon 9c.997_998dupTCFrame shift, protein truncation
JBR29Exon 11c.1177-5_1177-3delCTCExon 11 skip (frame shift, protein truncation)
JBR30Exon 7c.769-771delTCCIn-frame deletion