Table 3 Summary of folliculin variants found by sequencing

rs1736208

17081408

-

Genomic

G>A

0.25

0

rs1736209

17081210

c.-487

5' UTR

G>C

0.27

0

rs41345949

17081025

c.-302

5' UTR

C>T

0.06

0

rs1708629

17081022

c.-299

5' UTR

A>G

0.43

0

rs41337846

17079957

c.-228+994

IVS

T>C

0.14

0.0007

rs41388547

17079583

c.-228+1368

IVS

C>A

0.01

0

rs8069957

17075898

c.-90

5' UTR

T>C

0.01

0.001

rs1736212

17075733

c.-25+100

IVS

C>G

0.27

0

rs41525346

17070156

c.396+59

IVS

A>G

0.07

0

rs1736219

17068196

c.397-14

IVS

A>G

0.49

0

rs2292527

17066766

c.619-66

IVS

G>A

0.06

0

rs41356848

17066427

c.779+113

IVS

G>A

0.05

0

rs3744124

17065540

c.871+36

IVS ^‡

C>T

0.05

0

rs41462849

17065372

c.871+204

IVS

T>C

0.01

0

rs41400246

17065350

c.871+226

IVS

C>T

0.10

0

rs41323249

17064892

c.871+684

IVS

C>T

0.13

0

rs8065832

17063052

c.1062+6

IVS

A>G

0.48

0.008

rs4985705

17061393

c.1063-172

IVS

C>G

0.41

0

rs4985751

17061338

c.1063-117

IVS

G>A

0.02

0

rs41340844

17061077

c.1176+31

IVS

C>T

0.01

0

rs41424546

17061069

c.1176+39

IVS

C>T

0.10

0

rs41364753

17061040

c.1176+68

IVS

C>G

0.04

0

rs41371953

17060974

c.1176+134

IVS

C>G

0.04

0

rs7208065

17060929

c.1176+179

IVS

C>T

0.42

0

rs34520621

17060707

c.1177-165

IVS

G>A

0.04

0

rs41464156

17060450

c.1269

p.His423His

G>A

0.01

0.86

rs41459448

17060441

c.1278

p.Ile426Ile

G>A

0.01

0.99

rs34311146

17059414

c.1301-59

IVS

G>A

0.30

0

rs41419545

17059323

c.1333

p.Ala445Thr

C>T

0.01

0

rs34235236

17059167

c.1433-38

IVS

T>C

0.17

0

rs41442248

17058903

c.1538+121

IVS

G>A

0.01

0