Table 2. Rare non-synonymous variants of... | Rockefeller University Press

Table 2.

Rare non-synonymous variants of BTNL8 in all cohorts

dbSNP ID	Variant	Domain	AF (%)	CADD score	Functional testing	Phenotype	Genotype count^{^a}
dbSNP ID	Variant	Domain	AF (%)	CADD score	Functional testing	Phenotype	MIS-C ICL^b (n = 146)	MIS-C COVID-HGE (n = 690)	COVID-19 (n = 189)
rs138728915	S6G	LP	0.094	8.2	Normal	MIS-C	1^{^c}	1^{^c}
rs764166999	D25N	IgV	0.001	0.05	Normal	MIS-C		1
rs201494649	R57K	IgV	0.031	8.68	Normal	MIS-C and COVID-19		1	2
rs751468271	F60S	IgV	0.019	11.13	Normal	MIS-C		1
rs145199317	S62G	IgV	0.573	0.08	Normal	MIS-C and COVID-19	1	11^{^c}	1
rs573486977	G83D	IgV	0.004	13.52	Normal	MIS-C		2
rs144634509	A93T	IgV	0.053	5.48	Normal	MIS-C and COVID-19	1	2	1
-	L101Q	IgV	0	20.8	Reduced	MIS-C	1
rs749688648	T143M	IgC	0.003	0.001	Normal	COVID-19			1
rs146970792	R162Q	IgC	0.063	3.57	Normal	MIS-C	1^{^c}	2
rs144634509	R162W	IgC	0.004	6.01	Normal	MIS-C	1
-	K168E	IgC	0	21.9	Normal	MIS-C		1
rs138408550	S176F	IgC	0.047	17.85	Normal	MIS-C	1^{^c}	1^{^c}
rs554947046	V191A	IgC	0.01	13.15	Normal	MIS-C		6
rs143894862	R209W	IgC	0.099	17.37	Normal	MIS-C and COVID-19	1	3	1
rs374252379	R215Q	IgC	0.003	0.04	Normal	MIS-C		1
rs146434143	R215X	IgC	0.006	34	Loss	MIS-C		1
rs368136851	S232L	-	0.006	10.05	Reduced	MIS-C		1
rs151174174	P299L	B30.2	1.360^{^d}	17.52	Reduced	MIS-C and COVID-19	1	5+2(−/−)^{^c}	2(−/−)
rs142207026	H311N	B30.2	0.002	-	Normal	MIS-C	1
rs372387302	S335C	B30.2	0.002	13.48	Normal	MIS-C		1
rs188974899	Y342C	B30.2	0.326	22.9	Reduced	MIS-C		3
rs141157357	R354H	B30.2	0.026	0.58	Reduced	MIS-C		1^{^c}
rs148879045	Y446C	B30.2	0.045	11.02	Reduced	MIS-C		2^{^c}
rs375876659	P456S	B30.2	0.009	1.8	Reduced	MIS-C	1
rs375021363	A475T	-	0.015	0.35	Normal	MIS-C		1^{^c}

dbSNP ID	Variant	Domain	AF (%)	CADD score	Functional testing	Phenotype	Genotype count^{^a}
dbSNP ID	Variant	Domain	AF (%)	CADD score	Functional testing	Phenotype	MIS-C ICL^b (n = 146)	MIS-C COVID-HGE (n = 690)	COVID-19 (n = 189)
rs138728915	S6G	LP	0.094	8.2	Normal	MIS-C	1^{^c}	1^{^c}
rs764166999	D25N	IgV	0.001	0.05	Normal	MIS-C		1
rs201494649	R57K	IgV	0.031	8.68	Normal	MIS-C and COVID-19		1	2
rs751468271	F60S	IgV	0.019	11.13	Normal	MIS-C		1
rs145199317	S62G	IgV	0.573	0.08	Normal	MIS-C and COVID-19	1	11^{^c}	1
rs573486977	G83D	IgV	0.004	13.52	Normal	MIS-C		2
rs144634509	A93T	IgV	0.053	5.48	Normal	MIS-C and COVID-19	1	2	1
-	L101Q	IgV	0	20.8	Reduced	MIS-C	1
rs749688648	T143M	IgC	0.003	0.001	Normal	COVID-19			1
rs146970792	R162Q	IgC	0.063	3.57	Normal	MIS-C	1^{^c}	2
rs144634509	R162W	IgC	0.004	6.01	Normal	MIS-C	1
-	K168E	IgC	0	21.9	Normal	MIS-C		1
rs138408550	S176F	IgC	0.047	17.85	Normal	MIS-C	1^{^c}	1^{^c}
rs554947046	V191A	IgC	0.01	13.15	Normal	MIS-C		6
rs143894862	R209W	IgC	0.099	17.37	Normal	MIS-C and COVID-19	1	3	1
rs374252379	R215Q	IgC	0.003	0.04	Normal	MIS-C		1
rs146434143	R215X	IgC	0.006	34	Loss	MIS-C		1
rs368136851	S232L	-	0.006	10.05	Reduced	MIS-C		1
rs151174174	P299L	B30.2	1.360^{^d}	17.52	Reduced	MIS-C and COVID-19	1	5+2(−/−)^{^c}	2(−/−)
rs142207026	H311N	B30.2	0.002	-	Normal	MIS-C	1
rs372387302	S335C	B30.2	0.002	13.48	Normal	MIS-C		1
rs188974899	Y342C	B30.2	0.326	22.9	Reduced	MIS-C		3
rs141157357	R354H	B30.2	0.026	0.58	Reduced	MIS-C		1^{^c}
rs148879045	Y446C	B30.2	0.045	11.02	Reduced	MIS-C		2^{^c}
rs375876659	P456S	B30.2	0.009	1.8	Reduced	MIS-C	1
rs375021363	A475T	-	0.015	0.35	Normal	MIS-C		1^{^c}

All monoallelic unless stated otherwise (−/−).

ICL, Imperial College London cohort.

Six individuals carried more than one variant: S6G + R162Q; S6G + R162Q + S176F; R162Q + S176F; P299L + A475T; R354H + Y446C.

Included as the variant meets the 1% cut off for several relevant ancestral groups.