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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
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BMC Neurology

ISSN: 1471-2377

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