Table 7. FLCN gene mutations of patients among three countries.
Mutation sites | Nucleotide changes | The number of patients |
---|---|---|
Intron 4 | c.249+1G>T | 1 |
Intron 5 | c.397-1G>C | 2 |
Intron 7 | c.780-1G>T | 1 |
Intron 7 | c.780-2A>G | 1 |
Intron 9 | c.1062+1G>A | 1 |
Intron 10 | c.1179-10_1179-8delTCC | 1 |
Intron 10 | c.1177-5_1177-3delCTC | 1 |
Intron 11 | c.1300+1G>A | 1 |
Exon 4 | c.31T>C | 1 |
Exon 4 | c.145G>T | 1 |
Exon 4 | c.157C>T | 1 |
Exon 4 | c.185delG | 1 |
Exon 4 | c.214delA | 1 |
Exon 5 | c.332_349delACCCCAGCCACCCCCAGC | 1 |
Exon 6 | c.397-7_399delCCTCCAGGTC | 1 |
Exon 6 | c.469_471delTTC | 8 |
Exon 6 | c.510C>G | 1 |
Exon 6 | c.543C>G | 4 |
Exon 7 | c.649C>T | 2 |
Exon 7 | c.658C>T | 1 |
Exon 7 | c.668delA | 1 |
Exon 7 | c.747_756insGTGATGACAA | 1 |
Exon 7 | c.769_771delTCC | 1 |
Exon 7 | c.770-772delCCT | 1 |
Exon 8 | Break points were not determined? | 1 |
Exon 9 | c.933delT | 1 |
Exon 9 | c.946_947delAG | 2 |
Exon 9 | c.1015C>T | 1 |
Exon 10 | c.1067T>C | 1 |
Exon 10 | c.1135A>T | 1 |
Exon 10 | c.1153C>T | 2 |
Exon 10 | c.1156_1175del | 4 |
Exon 10 | c.1165G>T | 1 |
Exon 10 | Genomic deletion of exon 10 | 1 |
Exon 11 | c.1285C>T | 1 |
Exon 11 | c.1285dupC | 27 |
Exon 11 | c.1285delC | 27 |
Exon 12 | c.1347_1353dupCCACCCT | 12 |
Exon 12 | c.1379_1380delTC | 1 |
Exon 12 | c.1429C>T | 2 |
Exon 13 | c.1481A>G | 1 |
Exon 13 | c.1522_1524delAAG | 2 |
Exon 13 | c.1533_1536delGATG | 6 |
Exon 13 | c.1533G>A | 1 |
Exon 14 | c.1557delT | 3 |
Exon 14 | c.1579_1580insA | 7 |
Exon 14 | c.1645C>G | 1 |
Exon 14 | c.1658G>A | 1 |
Exon 14 | c.2297T>C | 1 |
Exon 14 | Genomic deletion of exon 14 | 1 |
Exon 14 | Unclear | 1 |
Unclear | Unclear | 19 |
Negative | – | 1 |
Total | 166 |