International Journal of Genomics

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.


1601074003Saliva		1601074003Blood		1601074003Blood reference lab		1601074004Saliva		1601074004Blood		1601074004Blood reference lab
Nucleotide	Zygosity	Nucleotide	Zygosity	Nucleotide	Zygosity	Nucleotide	Zygosity	Nucleotide	Zygosity	Nucleotide	Zygosity

c.-26G>A	Hetero	c.-26G>A	Hetero	—	—	c.1114A>C	Hetero	c.1114A>C	Hetero	c.1114A>C	Hetero
c.3396A>G	Hetero	c.3396A>G	Hetero	c.3396A>G	Hetero	c.3396A>G	Hetero	c.3396A>G	Hetero	c.3396A>G	Hetero
c.3807T>C	Hetero	c.3807T>C	Hetero	c.3807T>C	Hetero	c.4563A>G	Homo	c.4563A>G	Homo	c.4563A>G	Homo
c.4563A>G	Homo	c.4563A>G	Homo	c.4563A>G	Homo	c.6513G>C	Homo	c.6513G>C	Homo	c.6513G>C	Homo
c.6513G>C	Homo	c.6513G>C	Homo	c.6513G>C	Homo	c.7242A>G	Hetero	c.7242A>G	Hetero	c.7242A>G	Hetero
c.7242A>G	Hetero	c.7242A>G	Hetero	c.7242A>G	Hetero	c.7397C>T	Homo	c.7397C>T	Homo	c.7397C>T	Homo
c.7397C>T	Homo	c.7397C>T	Homo	c.7397C>T	Homo	c.7806-14T>C	Hetero	c.7806-14T>C	Hetero	c.7806-14T>C	Hetero
c.7806-14T>C	Hetero	c.7806-14T>C	Hetero	c.7806-14T>C	Hetero	c.8755-66T>C	Hetero	c.8755-66T>C	Hetero	—	—
c.8755-66T>C	Hetero	c.8755-66T>C	Hetero	—	—	c.8830A>T	Hetero	c.8830A>T	Hetero	c.8830A>T	Hetero
c.9257-83G>A	Hetero	c.9257-83G>A	Hetero	—	—	c.36C>G	Hetero	c.36C>G	Hetero	—	—
c.10234A>G	Hetero	c.10234A>G	Hetero	c.10234A>G	Hetero	c.4837A>G	Hetero	c.4837A>G	Hetero	c.4837A>G	Hetero
None detected		None detected		None detected		c.3548A>G	Hetero	c.3548A>G	Hetero	c.3548A>G	Hetero
						c.2612C>T	Hetero	c.2612C>T	Hetero	c.2612C>T	Hetero
						c.2458A>G	Hetero	c.2458A>G	Hetero	c.2458A>G	Hetero
						c.2082C>T	Hetero	c.2082C>T	Hetero	c.2082C>T	Hetero
						c.212+23T>A	Hetero	c.212+23T>A	Hetero	—	—
						c.-19-115T>C	Hetero	—	—	—	—