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Table 1 Variations identified by whole exome sequencing

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

Mutation type

Number

SNP analysis

 

Missense

1363

Nonsense

34

Splice site

206

Readthrough

5

Indel analysis

 

indel

37

Splice site

50

Frameshift

41

5-UTR

87

3-UTR

41

Promoter

4

Total

1868

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BMC Medical Genetics

ISSN: 1471-2350

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