Table 2.

Category Ip (known mutation).

Gene	Position	dbSNP Code	c.HGVS	Type	p.HGVS	References	Described Pathology in HGMD
ABCA1	9:107558416	rs528270977	c.5300A>G	Missense	p.Y1767C	[23]	Reduced total cholesterol
	9:107589238	rs138880920	c.2328G>C	Missense	p.K776N	[24,25,26]	Increased risk of ischemic heart disease
	9:107599376	rs9282543	c.1196T>C	Missense	p.V399A	[27,28,29]	Tangier disease
	9:107646756	rs145183203	c.254C>T	Missense	p.P85L	[29,30,31]	HDL deficiency
ABCG5	2:44065739	rs56204478	c.80G>C	Missense	p.G27A	[32,33]	Hypercholesterolaemia
ABCG8	2:44101610	rs370422066	c.1476T>A	Stop gained	p.Y492*	[34]	Phytosterolaemia
	2:44102301	rs761153163	c.1505C>T	Missense	p.P502L	[35]	Sitosterolaemia
ANGPTL4	19:8436373	rs140744493	c.1006C>T	Missense	p.R336C	[28,36,37]	Lower plasma triglyceride level
APOA4	11:116691720	rs147577451	c.1054A>T	Missense	p.N352Y	[34]	High triglyceride
	11:116692293	rs12721043	c.481G>T	Missense	p.A161S	[32,37,38]	Hyperlipidaemia
APOB	2:21225354	rs72654423	c.12940A>G	Missense	p.I4314V	[39]	Hypercholesterolaemia
	2:21228263	rs61744153	c.11477C>T	Missense	p.T3826M	[32,40,41]	Hypertriglyceridaemia
	2:21228339	rs12713540	c.11401T>A	Missense	p.S3801T	[40]	Hypercholesterolaemia
	2:21230828	rs72653098	c.8912A>C	Missense	p.N2971T	[42,43]	Familial hypercholesterolemia
	2:21231278	rs72653095	c.8462C>T	Missense	p.P2821L	[44,45]	Hypocholesterolaemia
	2:21232455	rs72653092	c.7285T>A	Missense	p.S2429T	[46,47,48]	Hypertriglyceridaemia
	2:21234674	rs151009667	c.5066G>A	Missense	p.R1689H	[46,49]	Hypertriglyceridaemia
	2:21238367	rs12713843	c.3383G>A	Missense	p.R1128H	[29,50,51]	Hypobetalipoproteinaemia
	2:21238413	rs12713844	c.3337G>C	Missense	p.D1113H	[37,51,52]	Hypobetalipoproteinaemia
	2:21249682	rs12714192	c.2222C>A	Missense	p.T741N	[37]	Dyslipidaemia
	2:21260934	rs6752026	c.433C>T	Missense	p.P145S	[37]	Dyslipidaemia
APOC2	19:45452024	rs120074114	c.122A>C	Missense	p.K41T	[29,37,53]	Apolipoprotein C2 deficiency
APOE	19:45411110	rs769452	c.137T>C	Missense	p.L46P	[48]	Hypercholesterolaemia
APOH	17:64210599	rs150652035	c.973T>G	Missense	p.C325G	[54,55,56]	Apolipoprotein H deficiency
CD36	7:80292426	rs138897347	c.550G>A	Missense	p.D184N	[57]	CD36 deficiency
CYP27A1	2:219679730	rs374507635	c.1573C>T	Stop gained	p.Q525*	[58]	Cerebrotendinous xanthomatosis
LDLR	19:11217352	rs143992984	c.806G>A	Missense	p.G269D	[48,59,60]	Hypercholesterolaemia
	19:11227604	rs137929307	c.1775G>A	Missense	p.G592E	[48,61,62]	Hypercholesterolaemia
	19:11233886	rs45508991	c.2177C>T	Missense	p.T726I	[63,64,65]	Hypercholesterolaemia
LIPA	10:90988005	rs544080483	c.380G>A	Missense	p.R127Q	[66]	Hypercholesterolaemia
LIPG	18:47109939	rs138438163	c.1171G>A	Missense	p.E391K	[34,67,68]	Higher plasma HDL cholesterol
	18:47109955	rs77960347	c.1187A>G	Missense	p.N396S	[34,69,70]	Higher plasma HDL cholesterol
LPA	6:160966559	rs139145675	c.5311C>T	Missense	p.R1771C	[71]	Plasminogen deficiency
	6:160969693	rs143431368	c.4974-2A>G	Splice acceptor	-	[31,72]	Lowered human lipoprotein(a) levels
LRP2	2:170042245	rs35734447	c.9613A>G	Missense	p.N3205D	[73]	Hypoplastic left heart syndrome
NPC2	14:74953134	rs151220873	c.88G>A	Missense	p.V30M	[74,75,76]	Niemann-Pick disease, type C2
SORT1	1:109910100	rs61797119	c.370A>G	Missense	p.I124V	[32,77]	Hypercholesterolaemia

cHGVS: change in the gene-coding sequence; pHGVS: amino acid change in the protein.