Table 1 Results of mutation analysis of the FLCN gene

B1

Exon 9 (17122448_449)

c.946_947delAG

p.Ser316Tyrfs*73

pathogenic

absent

B2

Exon 9 (17122462)

c.933delT^a

p.Pro311Profs*11

pathogenic

absent

B3

Intron 7 (17124943)

c.780-1G > T^a

Splicing

pathogenic

absent

B4

Exon 7 (17125936)

c.658C > T^a

p.Gln220*

pathogenic

absent

B5

Intron 5 (17127458)

c.397-1G > C

Splicing

pathogenic

absent

B6

Intron 4 (17131202)

c.249 + 1G > T^a

Splicing

pathogenic

absent

B7

Exon 4 (17131238)

c.214delA^a

p.Ser72Alafs*104

pathogenic

absent

B8

Exon 4 (17131295)

c.157C > T^a

p.Gln53*

pathogenic

absent

B9

Exon 13 (17118304)

c.1533G > A

p.Trp511*

pathogenic

absent

B10

Exon 12 (17118502)

c.1429C > T

p.Arg477*

pathogenic

absent

B11, B12, B13,B19, B20

Exon 11 (17119708)

c.1285dupC

p.His429Profs*27

pathogenic

0.0002388

B14, B15, B24, B27

Exon 11 (17119708)

c.1285delC

p.His429Thrfs*39

pathogenic

0.0002388

B16

Exon 10 (17120492)

c.1067 T > C^a

p.Leu356Pro

pathogenic

absent

B17

Exon 8 (break points were not determined)

∆E8^a

p.Trp260Cysfs*12

pathogenic

absent

B18

Exon 9 (17122380)

c.1015C > T^a

p.Gln339*

pathogenic

absent

B21

Intron 10 (17119825_827)

c.1179-10_1179-8delTCC^a

Splicing

pathogenic

absent

B22

Exon 10 (17120394)

c.1165G > T^a

p.Glu389*

pathogenic

absent

B23

Exon 14 (17117051)

c.1658G > A^a

p.Trp553*

pathogenic

absent

B25

Exon 7 (17129847_836)

c.747_756insGTGATGACAA^a

p.Asn249Lysfs*1

pathogenic

absent

B26

Exon 4 (17131307)

c.145G > T^a

p.Glu49*

pathogenic

absent