International Journal of Genomics / 2016 / Article / Tab 4

Research Article

Performance Characterization and Validation of Saliva as an Alternative Specimen Source for Detecting Hereditary Breast Cancer Mutations by Next Generation Sequencing

Table 4

Variant Caller data from saliva and from corresponding blood sample for sample ID 1601074003 and 1601074004.

1601074003Saliva1601074003Blood1601074003Blood reference lab1601074004Saliva1601074004Blood1601074004Blood reference lab
NucleotideZygosityNucleotideZygosityNucleotideZygosityNucleotideZygosityNucleotideZygosityNucleotideZygosity

c.-26G>AHeteroc.-26G>AHeteroc.1114A>CHeteroc.1114A>CHeteroc.1114A>CHetero
c.3396A>GHeteroc.3396A>GHeteroc.3396A>GHeteroc.3396A>GHeteroc.3396A>GHeteroc.3396A>GHetero
c.3807T>CHeteroc.3807T>CHeteroc.3807T>CHeteroc.4563A>GHomoc.4563A>GHomoc.4563A>GHomo
c.4563A>GHomoc.4563A>GHomoc.4563A>GHomoc.6513G>CHomoc.6513G>CHomoc.6513G>CHomo
c.6513G>CHomoc.6513G>CHomoc.6513G>CHomoc.7242A>GHeteroc.7242A>GHeteroc.7242A>GHetero
c.7242A>GHeteroc.7242A>GHeteroc.7242A>GHeteroc.7397C>THomoc.7397C>THomoc.7397C>THomo
c.7397C>THomoc.7397C>THomoc.7397C>THomoc.7806-14T>CHeteroc.7806-14T>CHeteroc.7806-14T>CHetero
c.7806-14T>CHeteroc.7806-14T>CHeteroc.7806-14T>CHeteroc.8755-66T>CHeteroc.8755-66T>CHetero
c.8755-66T>CHeteroc.8755-66T>CHeteroc.8830A>THeteroc.8830A>THeteroc.8830A>THetero
c.9257-83G>AHeteroc.9257-83G>AHeteroc.36C>GHeteroc.36C>GHetero
c.10234A>GHeteroc.10234A>GHeteroc.10234A>GHeteroc.4837A>GHeteroc.4837A>GHeteroc.4837A>GHetero
None detectedNone detectedNone detectedc.3548A>GHeteroc.3548A>GHeteroc.3548A>GHetero
c.2612C>THeteroc.2612C>THeteroc.2612C>THetero
c.2458A>GHeteroc.2458A>GHeteroc.2458A>GHetero
c.2082C>THeteroc.2082C>THeteroc.2082C>THetero
c.212+23T>AHeteroc.212+23T>AHetero
c.-19-115T>CHetero

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