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. Author manuscript; available in PMC: 2016 May 18.
Published in final edited form as: Genet Med. 2014 Dec 11;17(8):630–638. doi: 10.1038/gim.2014.176

Figure 2. Representative family histories and sequencing data for three probands with identified mutations.

Figure 2

A. Patient 5129, TP53 c.451C>A, p.P151T found by massively parallel sequencing and confirmed by Sanger sequencing. B. Patient 1723, TP53 c.733G>A, p.G245S found by massively parallel sequencing and confirmed by Sanger sequencing. C. Patient 5066, ATM c.8266A>T p.K2756X and CHEK2 c.444+1G>A found by massively parallel sequencing and confirmed by Sanger sequencing in both the proband and her brother (arrows).