Table 1.

Q703K allele frequency in our PFAPA, CAPS and uAID patients compared to the healthy population from gnomAD genome and exome data.

Allele frequency observed in PFAPA (JIR & AID-Net cohorts)			Allele frequency observed in CAPS (JIR & AID-Net cohorts)			Allele frequency observed in uAID (JIR & AID-Net cohorts)
14% (21/150)	Allele frequency in total population (gnomAD): 3.8% (10781/280716)	Allele frequency in European population (gnomAD): 5.1% (6584/129092)	25% (6/24)	Allele frequency in total population (gnomAD): 3.8% (10781/280716)	Allele frequency in European population (gnomAD): 5.1% (6584/129092)	42% (15/36)	Allele frequency in total population (gnomAD): 3.8% (10781/280716)	Allele frequency in European population (gnomAD): 5.1% (6584/129092)
	P < 0.001	P < 0.001		P < 0.001	P < 0.001		P < 0.001	P < 0.001