Table 2

Summarizes the total number of raw variants found in chromosome 2 and 19 of the two patients.

Variant calls


Nucleotide Variants

PatientX

PatientY


All Variants

229484

235450

%dbSNP

87.51

87.66

Coding

1867

2062

Nonsynonymous

921

983

Coding (novel)

170

198

Nonsynonymous (novel)

124

129

Candidate genes

5

6


Raw variants were then filtered with dbSNP (ver 129) and annotated with genetic information.

Evani et al. BMC Genomics 2012 13(Suppl 6):S19   doi:10.1186/1471-2164-13-S6-S19

Open Data