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Table 1 Comparison of high resolution melting curve analysis and sequencing results for wgaDNA and gDNA samples.

From: Whole-genome amplified DNA from stored dried blood spots is reliable in high resolution melting curve and sequencing analysis

Genes and Amplicons

Variants on Melting Curve Analysis

(10 patients in each group)

Sequence analysis results

(10 patients in each group)

   

SCN5A

gDNA

wgaDNA

gDNA

wgaDNA

Type

Result

Additional information

1

1

5

Wild Type

Wild Type

   

2

2

2

2

2

G->A

pos 87, no aa change

 

3

1

1

Wild Type

Wild Type

   

4

Wild Type

1

Wild Type

Wild Type

   

5

1

Wild Type

Wild Type

Wild Type

   

6

2

Wild Type

Wild Type

Wild Type

   

7

1

Wild Type

Wild Type

Wild Type

   

8

Wild Type

Wild Type

Wild Type

Wild Type

   

9

3

3

1

1

G->A

R340Q

Rare variant

10

5

6

3

3

C->A

Intronic

pos -3

11

6

4

3

3

G->A

Intronic

pos -24

12

7

6

3

3

A->G

H556R

Known variant

13

3

3

Wild Type

Wild Type

   

14

Wild Type

4

Wild Type

Wild Type

   

15

3

4

Wild Type

Wild Type

   

16

3

3

Wild Type

Wild Type

   

17

Wild Type

Wild Type

Wild Type

Wild Type

   

18

Wild Type

Wild Type

Wild Type

Wild Type

   

19

Wild Type

1

Wild Type

Wild Type

   

20

6

4

3

3

G->A

pos 1061, no aa change

 

21

Wild Type

Wild Type

Wild Type

Wild Type

   

22

1

1

Wild Type

Wild Type

   

23

Wild Type

Wild Type

Wild Type

Wild Type

   

24

Wild Type

Wild Type

Wild Type

Wild Type

   

25

Wild Type

Wild Type

Wild Type

Wild Type

   

26

3

4

Wild Type

Wild Type

   

27

1

1

Wild Type

Wild Type

   

28

2

2

Wild Type

Wild Type

   

29

2

2

Wild Type

Wild Type

   

30

Wild Type

Wild Type

Wild Type

Wild Type

   

31

1

1

Wild Type

Wild Type

   

32

Wild Type

Wild Type

Wild Type

Wild Type

   

33

7

7

7

7

T->C

pos 5457, no aa change

6 heterozygous, 1 homozygous

34

Wild Type

Wild Type

Wild Type

Wild Type

   

35

7

7

7

7

A->G

Intronic

6 heterozygous, 1 homozygous

KCNA5

gDNA

wgaDNA

gDNA

wgaDNA

Type

Result

Additional information

36

1

1

1

1

C->T

pos 381, no aa change

Same patient harbouring two variants

     

A->G

T155C

Same patient harbouring two variants

37

1

1

Wild Type

Wild Type

   

38

Wild Type

Wild Type

Wild Type

Wild Type

   

39

1

1

1

1

G->A

R578K

Rare variant

40

10

10

Wild Type

Wild Type

   

Total

81

85

31

31