Table 1 Genotype distributions for the health examination and patient groups.

exon 9

g.1050T>G

SNP

TT = 74 GG = 0

TT = 79 GG = 0

NS^#

silent

unreported

TG = 0 HW^$ = 1

TG = 1 HW = 0.955

exon 10

g.1378delG

deletion

GG = 74 -- = 0

GG = 79 -- = 0

NS

p.E460fs

unreported

-G- = 0 HW = 1

-G- = 1 HW = 0.955

exon 11

g.1458T>C

SNP

TT = 2 CC = 41

TT = 5 CC = 62

0.0012

silent

rs2229992^§

CT = 31 HW = 0.169

CT = 13 HW = 0.002

exon 11

g.1488A>T

SNP

AA = 73 TT = 0

AA = 80 TT = 0

NS

silent

rs9282599^§

AT = 1 HW = 0.953

AT = 0 HW = 1

exon 13

g.1635G>A

SNP

GG = 0 AA = 55

GG = 0 AA = 57

NS**

silent

rs351771^§

AG = 19 HW = 0.205

AG = 23 HW = 0.133

exon 15

g.3374T>C

mutation

TT = 73 CC = 0

TT = 77 CC = 0

NS

p.V1125A

unreported

TC = 1 HW = 0.953

CT = 3 HW = 0.864

exon 15

g.3378C>G

mutation

CC = 73 GG = 0

CC = 80 GG = 0

NS

p.S1126R

unreported

CG = 1 HW = 0.953

CG = 0 HW = 1

exon 15

g.4479G>A

SNP

GG = 2 AA = 49

GG = 0 AA = 69

0.0057

silent

rs41115^§

AG = 23 HW = 0.718

AG = 11 HW = 0.509

exon 15

g.4725A>G

SNP

AA = 74 GG = 0

AA = 79 GG = 0

NS

silent

unreported

AG = 0 HW = 1

AG = 1 HW = 0.955

exon 15

g.5034G>A

SNP

GG = 7 AA = 44

GG = 2 AA = 59

NS

silent

rs42427^§

AG = 23 HW = 0.141

AG = 19 HW = 0.753

exon 15

g.5268T>G

SNP

TT = 7 GG = 44

TT = 0 GG = 63

0.0023

silent

rs866006^§

GT = 23 HW = 0.141

GT = 17 HW = 0.288

exon 15

g.5465A>T

SNP

AA = 64 TT = 0

AA = 78 TT = 0

0.0145

p.D1822V

rs459552^§

AT = 10 HW = 0.533

AT = 2 HW = 0.910

exon 15

g.5880G>A

SNP

GG = 1 AA = 51

GG = 0 AA = 57

NS

silent

rs465899^§

AG = 22 HW = 0.418

AG = 23 HW = 0.133