Table 1 Genotype and allele frequencies of 39 polymorphisms in CAPN1

c.579G>A*

Exon5

K193K

G (187)

AG (177)

A (53)

0.339

0.448

0.276

c.630A>G*

Exon6

T210T

A (174)

AG (180)

G (67)

0.373

0.468

0.078

c.657C>T

Exon6

G219G

C (13)

CT (5)

T (5)

0.326

0.44

0.015

c.760-24T>C*

Intron6

.

T (210)

CT (161)

C (43)

0.298

0.419

0.148

c.843+96T>C

Intron7

.

T (10)

CT (12)

C (2)

0.333

0.444

0.54

c.843+161T>A

Intron7

.

T (10)

AT (12)

A (2)

0.333

0.444

0.54

c.843+195T>C

Intron7

.

T (10)

CT (12)

C (2)

0.333

0.444

0.54

c.843+269T>C

Intron7

.

T (10)

CT (12)

C (2)

0.333

0.444

0.54

c.843+288C>T

Intron7

.

C (10)

CT (12)

T (2)

0.333

0.444

0.54

c.843+323C>T

Intron7

.

C (13)

CT (5)

T (5)

0.326

0.44

0.015

c.843+330A>G*

Intron7

.

A (224)

AG (156)

G (31)

0.265

0.39

0.596

c.1199G>A*

Exon11

R400Q

G (417)

AG (3)

A (0)

0.004

0.007

0.941

c.1588G>A*

Exon14

V530I

G (289)

AG (111)

A (15)

0.17

0.282

0.293

c.1611+104C>T*

Intron14

.

C (227)

CT (155)

T (33)

0.266

0.391

0.369

c.1611+515G>A

Intron14

.

G (20)

AG (1)

A (0)

0.024

0.046

0.911

c.1736-164CCTinsdel

Intron16

.

del (19)

insdel (4)

ins (1)

0.125

0.219

0.243

c.1736-40A>G

Intron17

.

A (19)

AG (4)

G (1)

0.125

0.219

0.243

c.1800+169C>T

Intron17

.

C (16)

CT (5)

T (2)

0.196

0.315

0.138

c.1800+195G>A

Intron17

.

G (19)

AG (4)

A (1)

0.125

0.219

0.243

c.1869+60G>A

Intron18

.

G (19)

AG (4)

A (1)

0.125

0.219

0.243

c.1869+82A>G

Intron18

.

A (19)

AG (4)

G (1)

0.125

0.219

0.243

c.1869+91T>G

Intron18

.

T (19)

GT (4)

G (1)

0.125

0.219

0.243

c.1869+235G>C*

Intron18

.

C (128)

CG (189)

G (102)

0.469

0.498

0.053

c.2065+46A>G

Intron20

.

A (19)

AG (4)

G (1)

0.125

0.219

0.243

c.2065+68G>A

Intron20

.

G (19)

AG (4)

A (1)

0.125

0.219

0.243

c.2124+19Cinsdel

Intron21

.

ins (23)

insdel (1)

del (0)

0.021

0.041

0.917

c.2124+23T>G

Intron21

.

T (23)

GT (1)

G (0)

0.021

0.041

0.917

c.2124+74G>A

Intron21

.

G (22)

AG (2)

A (0)

0.042

0.08

0.831

c.2148G>A

Exon22

A716A

G (22)

AG (2)

A (0)

0.042

0.08

0.831

c.2151*479C>T*

3'UTR

.

C (342)

CT (65)

T (5)

0.091

0.165

0.345

c.2151*503Tinsdel

3'UTR

.

ins (22)

insdel (2)

del (0)

0.042

0.08

0.831

c.2151*550T>G

3'UTR

.

T (19)

GT (3)

G (0)

0.068

0.127

0.731

c.2151*557T>C

3'UTR

.

T (19)

CT (3)

C (0)

0.068

0.127

0.731

c.2151*562C>A

3'UTR

.

C (20)

AC (2)

A (0)

0.045

0.087

0.823

c.2151*578CTCCCTCCinsdel

3'UTR

.

ins (19)

insdel (3)

del (0)

0.068

0.127

0.731

c.2151*697T>C

3'UTR

.

T (19)

CT (3)

C (0)

0.068

0.127

0.731

c.2151*765A>G*

3'UTR

.

A (307)

AG (96)

G (12)

0.145

0.247

0.187

c.2151*832G>A*

3'UTR

.

G (335)

AG (75)

A (4)

0.1

0.18

0.931

c.2151*845A>G*

3'UTR

.

A (293)

AG (112)

G (12)

0.163

0.273

0.744