Skip to main content

Table 3 Variants detected by semiconductor sequencing of the seven selected genes in eight samples

From: Rapid molecular genetic diagnosis of hypertrophic cardiomyopathy by semiconductor sequencing

Gene

Position

Type

Zygosity

Nucleotide substitution

Variant frequency

P-value#

Coverage

Consequence

Novelty

No. of patients

Validated by Sanger sequencing

ACTC1

15:35084215

SNP

Het

C/G

47.94

6.3E-06

413

intron

rs3729755

5

Yes

ACTN2

1:236899042

SNP

Het

G/A

44.09

2.5E-05

254

intron

rs2288600

2

Yes

1:236902865

SNP

Het

A/C

55.93

1.0E-10

59

intron

rs2288602

8

Yes

1:236910983

SNP

Het

G/A

50.83

5.0E-05

303

missense

rs80257412

1

Yes

1:236902594

SNP

Het

C/G

49.1

6.3E-05

387

splice region

rs2288601

8

Yes

1:236882303

SNP

Hom

T/C

100

2.5E-07

299

synonymous

rs1341864

8

Yes

1:236883421

SNP

Hom

C/T

100

2.5E-07

301

synonymous

rs1341863

8

Yes

1:236898942

SNP

Het

G/C

44.86

5.0E-05

185

synonymous

rs2288599

1

Yes

1:236925844

SNP

Het

G/A

47.51

1.6E-05

402

synonymous

rs12063382

1

Yes

JPH2

20:42745062

SNP

Het

C/G

51.85

1.6E-05

542

intron

rs184801349

1

Yes

20:42814931

SNP

Hom

T/C

100

2.0E-04

68

intron

rs6031442

2

Yes

20:42747247

SNP

Het

C/T

51.85

6.3E-06

675

missense

rs3810510

6

Yes

20:42743454

SNP

Het

A/G

61.57

5.0E-05

216

synonymous

rs6093935

2

Yes

20:42815190

SNP

Het

G/A

48.17

4.0E-05

764

synonymous

rs1883790

8

Yes

MYBPC3

11:47361084

SNP

Hom

T/C

99.59

1.3E-06

245

intron

rs2856653

8

Yes

11:47364248

SNP

Het

C/T

48.39

6.3E-06

839

missense

CM981325

1

Yes

11:47370041

SNP

Het

T/C

48.2

4.0E-05

639

missense

rs3729989

1

Yes

11:47354782

SNP

Het

C/T

62.19

2.0E-05

283

stop gained

Novel

2

Yes

11:47354787

SNP

Het

C/T

50.92

6.3E-05

218

synonymous

rs1052373

8

Yes

MYH7

14:23882144

SNP

Hom

T/C

95.41

4.0E-07

283

intron

rs2284651

2

Yes

14:23883195

SNP

Het

G/A

52.63

3.2E-05

779

intron

rs3729499

1

Yes

14:23900093

SNP

Hom

C/T

99.66

1.6E-08

594

intron

rs45580436

1

Yes

14:23902974

SNP

Het

C/A

55.58

2.0E-05

403

intron

rs3729992

1

Yes

14:23895179

SNP

Het

C/T

47.07

5.0E-06

871

missense

rs121913641

1

Yes

14:23895180

SNP

Het

G/A

48.93

7.9E-06

750

missense

rs121913637

1

Yes

14:23902806

SNP

Het

A/G

45.93

2.0E-05

405

missense

Novel

8

No

14:23892888

SNP

Hom

A/G

100

1.6E-08

582

synonymous

rs7157716

2

Yes

14:23899060

SNP

Het

G/A

52.54

5.0E-05

788

synonymous

rs735712

1

Yes

14:23900794

SNP

Het

G/A

45.06

5.0E-05

466

synonymous

rs2069542

1

Yes

14:23902753

SNP

Het

G/A

34.09

6.3E-06

44

synonymous

rs2069540

4

Yes

MYOZ2

4:120079159

SNP

Hom

A/G

98.14

2.0E-07

322

intron

rs11721566

8

Yes

4:120106982

SNP

Hom

T/C

99.54

1.6E-06

217

intron

rs7661020

7

Yes

4:120057709

SNP

Het

A/C

46.36

7.9E-05

302

missense

rs76757102

2

Yes

PRKAG2

7:151265714

SNP

Hom

C/T

100

2.0E-06

177

intron

rs2241053

5

Yes

7:151292395

INS

Hom

–/T

84.34

1.0E-10

281

intron

Novel

8

No

7:151292395

SNP

Het

A/T

30.58

3.2E-05

121

intron

rs35348247

6

Yes

7:151478406

SNP

Het

C/T

51.55

1.6E-05

419

missense

rs79474211

1

Yes

7:151483612

SNP

Het

C/T

47.25

4.0E-05

946

missense

rs144857453

1

Yes

  1. # P-value was generated automatically by the Ion Torrent platform-specific software Torrent Suite v3.6.2, detail refer to Supplementary materials.