Supplementary Table S2.

Population Variants Included in Functional Studies

Variant	rs identifier	Pathogenicity Predictions			Frequency1
		REVEL	CADD	Rhapsody
p.Gln25Arg	rs867378394	0.43	23.3	0.39	-
p. Glu41Gln	rs771984756	0.42	24.7	0.42	0.00005
p.Asn47Ser	rs28938777	0.28	22.0	0.49	0.08
p.Ala52Thr	rs755465505	0.16	19.0	0.07	0.00005
p.Cys70Arg	rs375718709	0.79	23.7	0.80	0.00006
p.Thr77Ile	rs372880215	0.17	10.7	0.10	0.0001
p.Lys93Glu	rs746109701	0.08	6.5	0.07	0.00005
p.Tyr101Phe	rs769214649	0.39	18.4	0.39	0.0002
p.Glu138Lys	rs750580815	0.07	11.3	0.15	0.00003
p.Gly141Asp	rs758533837	0.09	0.7	0.40	0.00005
p.Ala144Thr	rs780261792	0.01	2.3	0.07	0.00003
p.Ile146Val	rs202059991	0.10	5.8	0.28	0.00009
p.Gln153Arg	rs771496493	0.26	4.8	0.33	0.00004

The common p.Asn47Ser variant is highlighted in bold font.

Abbreviation: CADD, Combined Annotation Dependent Depletion; REVEL, Rare Exome Variant Ensemble Learner.

¹Maximum frequency observed across gnomAD (r2.1.1) populations.