Table 2 Ranked cardiac expressed exome variants identified

1

236882307

G

A

ACTN2

Actinin, alpha 2

581.019

Ala119Thr

0

G = 13006

0

5.56

58

0.999

12

33049590

C

T

PKP2

Plakophilin 2

257.408

Asp26Asn

143004808

T = 60/C = 12284

0.0027

4.07

23

0.992

3

49158893

C

T

LAMB2

Laminin, beta 2

241.959

Ala1745Thr

142041381

T = 5/C = 13001

0

5.34

58

1

20

6012009

C

T

CRLS1

Cardiolipin synthase 1

54.3269

Pro119Leu

0

C = 13004

0

5.83

98

0.996

6

138428407

G

A

PERP

TP53 apoptosis effector

50.2039

Ala24Val

0

G = 12832

0

−2.97

64

0

X

32509625

A

C

DMD

Dystrophin

41.8677

Asn789Lys

72468681

C = 63/A = 10498

0.01

0.181

94

0.856

10

81109459

G

C

PPIF

Peptidylprolyl isomerase F

40.9854

Gly89Arg

145899672

A = 3/G = 13003

0

5.4

125

1

2

44200942

T

C

LRPPRC

Leucine-rich pentatricopeptide repeat containing

35.1996

Asn418Ser

0

C = 1/T = 13005

0

2.14

46

0.199

19

11617100

C

T

ECSIT

ECSIT homolog

26.5929

Glu185Lys

0

C = 12994

0

5.4

56

0.999

19

11623977

T

C

ECSIT

ECSIT homolog

26.5929

Asn211Ser

202141211

T = 13006

0

4.94

46

1

3

38645378

G

T

SCN5A

Sodium channel, type V, alpha subunit

26.2725

Ala572Asp

36210423

T = 21/G = 12443

0

3.19

126

0.116

19

48257869

C

T

GLTSCR2

Glioma tumor suppressor candidate region gene 2

25.0259

Thr284Met

200463741

T = 58/C = 12146

0.0027

1.65

81

0.927

3

33633938

T

C

CLASP2

Cytoplasmic linker associated protein 2

21.537

Lys440Glu

0

T = 11976

0

5.68

56

0.525

9

131341997

T

G

SPTAN1

Spectrin, alpha, non-erythrocytic 1

21.2749

Ser435Ala

144787939

G = 26/T = 12980

0

5.35

99

0.614

2

238280543

C

T

COL6A3

Collagen, type VI, alpha 3

21.1203

Ala1373Thr

112181324

T = 12/C = 12994

0.0018

−0.587

58

0.635

5

122135444

A

G

SNX2

Sorting nexin 2

20.0545

Glu95Gly

141745241

G = 6/A = 13000

0

5.25

98

0

5

57755609

G

C

PLK2

Polo-like kinase 2

19.4331

His60Asp

140600076

C = 14/G = 12940

0

5.26

81

0.008

9

140006432

A

G

DPP7

Dipeptidyl-peptidase 7

18.8162

Met367Thr

78671427

G = 47/A = 12959

0.0018

3.97

81

0.946

2

39509689

T

C

MAP4K3

Mitogen-activated protein kinase 3

18.6804

Ile511Val

78142399

C = 57/T = 12949

0.0014

5.21

29

0.007

6

31600314

G

C

PRRC2A

Proline-rich coiled-coil 2A

18.6379

Glu1288Asp

0

G = 8436

0

−2.26

45

0