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. Author manuscript; available in PMC: 2010 Apr 15.
Published in final edited form as: Hum Genet. 2010 Feb 18;127(5):573–582. doi: 10.1007/s00439-010-0801-z

Table 3.

TSC2 mosaic mutations detected by 454 ultra-deep pyrosequencing

Exon Mutation Protein Number of reads over total reads Frequency of reads %
Forward Reverse
14 1444-1G>A splice 36/584 20/464 5.34
40 5228G>A R1743Q 9/158 12/235 5.34