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Table 2 Common SNPs in F8 gene (exonic region)

From: Three novel F8 mutations in sporadic haemophilia A cases

Sr. #

Patient

Exon

SNP ambiguity

SNP

Codon

Codon#

Comments

Accession number

1

All 62 Samples

2

W: A/T

A/A

GA T

75

European = T/T

rs1800288

2

All 62 Samples

7

K: G/T

G/G

TGG

274

European = C/C; Spanish Caucasians = C(0.995)/A(0.005); African American, Chinese, Southeast Asia, Mexican Indian = C/A

rs34371500

3

All 62 Samples

8

R: G/A

G/G

CG C

391

Ancestral: G

rs137852364

4

All 62 Samples

8

Y: T/C

T/T

T CA

392

European = C/C

rs28933669

5

All 62 Samples

8

Y: C/T

C/C

TC A

392

?

rs28933668

6

All 62 Samples

8

K: T/G

T/T

AT T

405

European = A/A

rs28933670

7

All 62 Samples

8

R: A/G

A/A

GA G

409

?

rs28933671

8

All 62 Samples

9

K: G/T

T/T

TTG

431

Ancestral: G

rs28933672

9

All 62 Samples

9

R: A/G

A/A

AA A

444

Ancestral: G

rs28937272

10

All 62 Samples

9

W: T/A

T/T

T AC

450

Ancestral: A

rs111033616

11

All 62 Samples

10

R: G/A

G/G

CG T

503

Ancestral: A

rs35383156

12

All 62 Samples

12

Y: T/C

T/T

CTT

622

Ancestral: T

rs1800290

13

All 62 samples

15

R: G/A

G/G

CAG

1764

Ancestral: A

rs5986891

14

All 62 samples

16

R: G/A

G/G

ATG

1842

European = G/G

rs28943674

15

All 62 samples

16

Y: C/T

C/C

C CC

1844

European = C/C

rs28933675

16

All 62 samples

16

M: A/C

A/A

A CT

1845

?

rs28933676

17

All 62 samples

16

Y: C/T

C/C

GC C

1853

European = C/C

rs28933677

18

All 62 samples

17

D: G/A/T

G/G

GAT

1865

Not Available

CI076951

19

All 62 samples

17

R: A/G

A/A

CA C

1867

Ancestral: G

rs28933679

20

All 62 samples

17

S: C/G

C/C

CC C

1873

European = G/G

rs28933680

21

All 62 samples

17

R: G/A

G/G

G AG

1904

European = C/C

rs28933681

22

All 62 samples

17

S: G/C

G/G

TG C

1922

European = G/G

rs4384155

23

All 62 samples

17

S: C/G

C/C

TGC

1922

European = C/C

rs4520342

24

All 62 samples

18

R: A/G

A/A

AAT

1940

?

CM083806

25

All 62 samples

18

D: G/A/T

G/G

CG A

1960

?

rs28937294

26

All 62 samples

18

R: G/A

G/G

GGC

1967

?

rs111033615

27

All 62 samples

24

Y: C/T

C/C

TAC

2214

Ancestral: C

rs1800296