MRI characterisation of adult onset alpha-methylacyl-coA racemase deficiency diagnosed by exome sequencing

Table 2 Exomic variant filtration

Filter	Count
Exomic variants	19596
- Excluding synonomous variants	9584
- Not in 80 Norwegian Exomes	251
- Not in 1000Genomes (0.5% MAF)	220
Putative Recessive	7 genes
In homozygous regions shared by both siblings	3 genes

Variant filtration of exome sequencing data from Patient B compared with whole genome genotyping data in both affected siblings reveal three genes consistent with a homozygous causal mutation.

ISSN: 1750-1172