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Table 2 Variations identified in five candidate loci with LOD scores of 1-3

From: Combinational analysis of linkage and exome sequencing identifies the causative mutation in a Chinese family with congenital cataract

Chromosome

Position*

Gene

Mutation type

Mutation

chr2

198351787

HSPD1

SNP

G>A

chr2

198351850

HSPD1

SNP

G>A

chr2

198363406

HSPD1

SNP

G>A

chr2

202173902

ALS2CR12

SNP

C>T

chr2

208989018

CRYGD

SNP

C>A

chr2

210557406

MAP2

SNP

C>T

chr3

128859211

ISY1

SNP

C>A

chr3

129302495

PLXND1

SNP

C>T

chr3

133331276

TOPBP1

SNP

G>A

chr3

142031581

XRN1

SNP

G>A

chr3

127294786-127294788

TPRA1

Indel

-3GAA

  1. *Coordinates based on the genome assembly hg19.
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BMC Medical Genetics

ISSN: 1471-2350

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