Whole exome sequencing revealed a novel homozygous variant in the DGKE catalytic domain: a case report of familial hemolytic uremic syndrome

Table 1 Summary of variants revealed via whole exome sequencing

Variant types	Proband
Total number of variants obtained	52,889
Total Indel variants	237
Exonic nonsynonymous variant^a	754
Exonic nonsynonymous homozygous variant^a	87
Frame shift^a	2
Stop gain^a	3
Inframe deletion^a	1
Splice site^a	1

ISSN: 1471-2350