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Table 3 Different haplotypes constructed from the sequence variants in the CES1 promoter region.

From: High-resolution physical map for chromosome 16q12.1-q13, the Blau syndrome locus

Sequence variant site

Haplotype

 

1

2

3

4

5

6

7

939

G

T

G

T

T

G

T

968

G

G

A

A

A

A

G

975

G

G

A

A

A

G

G

993

C

C

G

G

G

G

G

994

G

G

A

A

A

A

A

1012

G

G

C

C

C

C

C

1024

C

C

G

G

G

G

G

1028

T

T

C

C

C

C

C

1029

C

C

T

T

T

T

T

1032

G

G

A

A

A

A

A

1047

G

G

T

T

T

T

T

1081

G

G

A

A

A

A

A

1087

T

T

A

T

A

A

T