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Table 1 Allele frequencies at heteroplasmic sites in Family F4.

From: Dynamics of mitochondrial heteroplasmy in three families investigated via a repeatable re-sequencing study

   

Family F4

Tissue

Site

Ref

M5G (grandmother)

M9 (daughter of M5G)

M4 (daughter of M5G)

M4-C1 (child of M4)

M4-C3 (child of M4)

   

A

C

G

T

cvrg

A

C

G

T

cvrg

A

C

G

T

cvrg

A

C

G

T

cvrg

A

C

G

T

cvrg

blood

5063

T

0.000

0.001

0.000

0.998

81,207

0.000

0.001

0.000

0.999

21,069

0.000

0.016

0.000

0.984

12,376

0.000

0.001

0.000

0.999

5,228

0.000

0.001

0.000

0.999

50,019

 

7028

T

0.002

0.975

0.001

0.021

5,739

0.001

0.966

0.001

0.032

1,671

0.000

0.975

0.000

0.025

5,102

no data

0.002

0.910

0.000

0.088

4,036

    
 

8992

C

0.000

0.652

0.000

0.347

52,519

0.000

0.659

0.000

0.341

15,597

0.000

0.672

0.000

0.327

14,174

0.000

0.526

0.000

0.474

4,585

0.000

0.670

0.000

0.330

35,005

   

A

C

T

G

cvrg

A

C

T

G

cvrg

A

C

T

G

cvrg

A

C

T

G

cvrg

A

C

T

G

cvrg

cheek

5063

T

0.000

0.001

0.000

0.999

59,896

0.000

0.001

0.000

0.999

20,635

0.000

0.020

0.000

0.980

2,294

0.000

0.002

0.000

0.998

2,073

0.000

0.001

0.000

0.998

29,013

 

7028

T

0.001

0.982

0.001

0.015

3,905

0.001

0.965

0.001

0.033

1,526

no data

no data

0.001

0.965

0.000

0.034

2,071

 

8992

C

0.000

0.545

0.000

0.454

38,968

0.000

0.639

0.000

0.360

14,624

0.000

0.686

0.000

0.314

1,931

0.001

0.578

0.000

0.421

1,433

0.000

0.669

0.000

0.330

19,214

  1. The frequencies were calculated by dividing the number of reads supporting a given allele by the quality adjusted coverage listed in "coverage" column. Quality adjusted coverage = number of reads where the base aligning over a given position has a phred score equal or higher than 30.