Screening and verifying the mutations in the LDLR and APOB genes in a Chinese family with familial hypercholesterolemia

Table 3 Information on FH-related gene (LDLR, APOB, and PCSK9) variants in the family

Numbers	Gene Name	ID	DNA change	Mutation type	Clinical classification	Allele Frequency
1	LDLR	rs28942084	c.2054C>T	Missense	Likely Pathogenic	0.00003
2	LDLR	rs2228671	c.81C>T	Synonymous	Benign	-
3	LDLR	rs5930	c.1413A>G	Synonymous	Benign	0.6336
4	LDLR	rs5929	c.1617C>T	Synonymous	Benign	0.07550
5	LDLR	rs688	c.1773C>T	Synonymous	Benign	0.3825
6	LDLR	rs5925	c.1959T>C	Synonymous	Benign	0.4150
7	LDLR	rs5927	c.2232A>G	Synonymous	Unclassified	0.7776
8	LDLR	-	c.497delinsGGATCCCCCAGCTGCATCCCCCAG	Frameshift insertion	Unreported	-
9	APOB	rs17240441	c.35_43del	Non-frameshift deletion	Unreported	-
10	APOB	rs1367117	c.293C>T	Missense	Benign/Likely benign	0.2562
11	APOB	rs13306198	c.581C>T	Missense	Benign/Likely benign	0.00470
12	APOB	rs679899	c.1853C>T	Missense	Benign/Likely benign	0.4818
13	APOB	rs185540148	c.3314C>T	Missense	Unreported	0.000007075
14	APOB	rs568413	c.4265G > A	Missense	Unreported	0.9998
15	APOB	rs584542	c.6937A>G	Missense	Benign	-
16	APOB	rs676210	c.8216C>T	Missense	Unreported	0.2866
17	APOB	rs1042031	c.12541G>A	Missense	Uncertain significance	-
18	APOB	rs1042034	c.13013G>A	Missense	Benign	0.7119
19	APOB	rs693	c.7545C>T	Synonymous	Benign	0.3877
20	APOB	rs1041968	c.6936C> T	Synonymous	Benign	0.3872
21	PCSK9	rs562556	c.1420G>A	Missense	Unreported	0.8539
22	PCSK9	rs505151	c.2009G>A	Missense	Unreported	0.9417
23	PCSK9	rs509504	c.1026A>G	Synonymous	Benign	0.9942
24	PCSK9	rs540796	c.1380A>G	Synonymous	Benign	0.8539

Abbreviations: APOB, apolipoprotein B; LDLR, low-density lipoprotein receptor; PCSK9, proprotein convertase subtilisin/kexin 9

ISSN: 1476-511X