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. 2016 Sep 28;2016:bcr2016216922. doi: 10.1136/bcr-2016-216922

Table 1.

Variants and genotypes detected

	EXaC frequency	Genotype
Gene/variant	EXaC frequency	Patient	Mother	Father	Healthy brother
MEFV/c.1105C>T p.P369S	0.01423	c.1105C;c.1105T	c.1105C;c.1105T	c.1105C	c.1105C
MEFV/c.1223G>A p.R408Q	0.0128	c.1223G;c.1223A	c.1223G;c.1223A	c.1223G	c.1223G
XIAP/c.1026delT p.I342fs	–	c.1026delT	c.1026T;c.1026delT	c.1026T	c.1026delT
XIAP/c.1027C>A p.H343N	–	c.1027C>A	c.1027C;c.1027A	c.1027C	c.1027C>A
XIAP/c.1031T>A p.L344	–	c.1031T>A	c.1031T;c.1031A	c.1031T	c.1031T>A

EXaC, The Exome Aggregation Consortium; MEFV, NM_000243.2; XIAP, NM_001167.3.