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Table 4 The exome sequencing and sanger sequencing results of the 3 candidate genes

From: Exome sequencing identifies mutations in ABCD1 and DACH2in two brothers with a distinct phenotype

Gene

Chromosome

Position

Reference

Exome sequencing

Sanger sequencing

(NCBI36/hg18)

Patient 1

Patient 2

Mother

Patient 1

Patient 2

Mother

Father

GNAQ

9

79,726,915

G

G/T

G/T

G

G

G

G

G

GNAQ

9

79,726,932

T

T/A

T/A

T/A

T

T

T

T

DACH2

X

85,856,344

A

T

T

A/T

T

T

A/T

A

ABCD1

X

152,654,804

G

C

C

C/G

C

C

C/G

G