Table A2.

List of the PSCK9 variants described in Russian patients.

Number of Index Patients 1	Exon	DNA Change	Protein Change	dbSNP ID	gnomAD MAF (v. 2.1.1)	ACMG Interpretation	ClinVar Interpretation	ClinVar ID	References
1	1	c.100G > A	p.Glu34Lys	rs371030381	0.00001626	VUCS	VUS	536202
1	1	c.142G > A	p.Glu48Lys	rs1278890129	0.00002190	VUCS	P/VUS	440707
1	1	c.151G > C	p.Gly51Arg			VUCS
1	2	c.382G > A	p.Gly128Ser	rs766314770	0.00003978	VUCS
1	3	c.411G > T	p.Leu137Phe			VUCS
1	3	c.520C > T	p.Pro174Ser	rs533273863	0.00007089	VUCS	VUS	496561
1	3	c.523 + 2T > G				LP
1	5	c.709C > T	p.Arg237Trp	rs148195424	0.0006952	VUCS	VUS/LB	265933
1	5	c.751C > T	p.Arg251Cys	rs778900671	0.00002009	VUCS
1	7	c.1046G > A	p.Gly349Glu			VUCS
1	7	c.1069C > T	p.Arg357Cys	rs148562777	0.0001450	LP	VUS	575758
1	7	c.1070G > A	p.Arg357His	rs370507566	0.00003978	VUCS	VUS	403288
1	7	c.1120G > A	p.Asp374Asn	rs137852912	0.00007079	LP
3	9	c.1399C > G	p.Pro467Ala	rs772677312	0.00002829	LP	LP/VUS	265944
1	9	c.1483C > T	p.Arg495Trp	rs758999339	0.00001607	VUCS
2	9	c.1487G > A	p.Arg496Gln	rs139669564	0.0002363	VUCS	VUS/LB	438338
1	10	c.1621C > T	p.Pro541Ser	rs369996097	0.00001056	VUCS
0	11	c.1834G > A	p.Glu612Lys			VUCS			[32]
1	12	c.1903T > C	p.Cys635Arg			VUCS
1	12	c.1939G > C	p.Ala647Pro			VUCS
1	12	c.2002A > G	p.Ser668Gly	rs775077080	0.00004790	VUCS	VUS	297707
1	12	c.2004C > A	p.Ser668Arg	rs762298323	0.00002397	VUCS	VUS	403291
1		c.*415G > A				VUCS			[32]

¹ Only for variants found in this study a number of index patients is given. Variants from systematic review are labelled with “0”.