Table 1.

Overview of PLP ARNSHI variants by gnomAD population

Pop	Description	Number of PLP Variantsa	Number of Genesb	Number of Individualsc	Vcumf d	GfTotale	ARNSHI prevalencef
AFR	African/African American	104	28	7,151	1.96 × 10−2	5.21 × 10−5	5.2
ASJ	Ashkenazi Jewish	44	18	4,733	6.57 × 10−2	9.69 × 10−4	96.9
EAS	East Asian	90	29	8,205	3.13 × 10−2	1.71 × 10−4	17.1
FIN	Finnish	42	18	10,504	1.82 × 10−2	9.52 × 10−5	9.5
LAT	Latino	158	36	16,064	2.77 × 10−2	2.61 × 10−4	26.1
NFE	Non-Finnish European	317	44	52,253	3.76 × 10−2	2.67 × 10−4	26.7
SAS	South Asian	162	40	14,694	3.99 × 10−2	3.37 × 10−4	33.7
ALLg	Total	515	53	116,218	3.45 × 10−2	2.14 × 10−4	21.4

^aThe number of PLP variants cannot be compared between populations due to differences in sample sizes

^bInformation on each gene’s contribution to ARNSHI can be found in Supplementary Table S5 and S6

^cBased on the average exome read depth i.e., ≥10 × and genotype quality score i.e., ≥20 for PLP variants

^dCummulative variant frequency for each population

^eEstimated frequency of individuals with ARNSHI due to PLP variants

^fARNSHI prevalence due to known PLP variants represented as the number affected per 100,000 individuals

^gIncludes all gnomAD populations (including “Other”). Pop: population code; PLP: Pathogenic and Likely pathogenic variants