Skip to main content

Table 1 Result of exome sequencing

From: Exome sequencing reveals a novel TTC19 mutation in an autosomal recessive spinocerebellar ataxia patient

Sequencing data

 

  Total reads

100,134,744

  Mapped reads

90,942,725

  Mean coverage

90

Variant

 

  Total

98,277

  Not found in public DBs

8,699

  AA substitution

873

  Homozygote

76

  Not found in in-house DB

20

  IBD

4

  Nonsense

1

Back to article page

BMC Neurology

ISSN: 1471-2377

Contact us