Table 2.

Allele frequencies of patients’ variants in Qatar Genome Programme and gnomAD.

Gene	Variant	ID	Region	gnomAD Freq	QGP Freq	Hom. individuals in QGP	Het. Individuals in QGP	adj-p-value
PRF1	NM_001083116.1:c.50de	rs147035858	Qatari	C = 0.0002371	C = 0.000238598	—	—	1
PRF1	NM_001083116.3:c.893A>G	rs1271079313	Qatari	C = 0.00000795	C = 0.000647624	—	19	1.13E-16
PRF1	NM_001083116.3:c.658G>A	rs776571416	Arab non-Qatari	T = 0.000007	Not present	—	—	NA
PRF1	NM_001083116.3.c.673C>T	rs28933973	Arab non-Qatari	A = 0.000012	Not present	—	—	NA
UNC13D	NM_199242.3:c.2955-5C>T	rs201791093	Asian	A = 0.000013 (deletion not found, only 1 SNP in this position)	Not present	—	—	NA
UNC13D	NM_199242.3:c.2346_2349de	rs764196809	Caucasian	delCCCT = 0.000108	Not present	—	—	NA
LYST	NM_000081.4:c.281C>T	rs777389303	Arab non-Qatari	A = 0.000240	Not present	—	—	NA
RAB27A	NM_183235.3:c.400A>G	NA	Arab non-Qatari	not present (literature only)	Not present	—	—	NA
RAB27A	NM_183235.3:c.550C>T	rs200956636	Arab non-Qatari	A = 0.000068	Not present	—	—	NA
RAB27A	NM_183235.3:c.244C>T	rs753966933	Qatari	A = 0.000016	A = 0.00541959	7	145	2.89E-148

Freq, frequency; Het, heterozygous; Hom, homozygous.