Table 1.

Nomenclature and characteristics of the 12 most common mutations

Common namea	Official nameb	N (% of total)	Gene	Subjects with known LDL-Cc			Untreated subjectsd
				N	LDL-C	pLDL	N	LDL-C	pLDL
N543H/2393del9bp	p.Asn564His/c.2393del9	2299 (17.4)	LDLR	1141	5.0 ± 1.5	88	724	4.4 ± 1.2	87
R3500Q	p.Arg3527Gln	1653 (12.5)	APOB	1328	4.9 ± 1.5	87	875	4.3 ± 1.1	84
1359-1	c.1359-1 G > A	979 (7.4)	LDLR	478	6.2 ± 2.1	92	181	5.2 ± 1.6	91
313 + 1/2	c.313 + 1 G > C/c.313 + 2 T > C	844 (6.4)	LDLR	491	6.2 ± 2.0	93	244	5.4 ± 1.4	92
W23X	p.Trp44X	472 (3.6)	LDLR	268	6.2 ± 1.8	93	132	5.6 ± 1.6	93
S285L	p.Ser306Leu	466 (3.5)	LDLR	276	5.1 ± 1.4	91	180	4.8 ± 1.3	91
E207K	p.Glu228Lys	437 (3.3)	LDLR	276	6.3 ± 2.3	93	120	5.3 ± 1.4	95
2.5 kb del (Cape Town-2)	c.941-?_c.1186 + ? del	295 (2.2)	LDLR	163	6.4 ± 2.4	94	74	5.2 ± 1.4	94
191-2	c.191-2A > G	271 (2.1)	LDLR	197	6.4 ± 2.4	94	79	5.3 ± 1.3	94
G322S	p.Gly343Ser	236 (1.8)	LDLR	212	4.4 ± 1.5	79	140	3.9 ± 1.0	75
G186G	p.Gly207Gly	218 (1.7)	LDLR	246	5.2 ± 1.7	89	131	4.5 ± 1.2	89
V408M	p.Val429Met	192 (1.5)	LDLR	82	6.1 ± 1.8	93	44	5.4 ± 1.5	91

LDL-C levels (millimoles per litre) are expressed as mean ± standard deviation, pLDL-C mean percentile for age and gender

N number, not including index cases, LDLR low-density lipoprotein receptor, APOB apolipoprotein B, LDL-C low-density lipoprotein cholesterol

^aCommon name representing numbering of the codons with initiation codon is −21 for LDLR and −27 for APOB

^bOfficial name representing numbering of the codons with the initiation codon is 1 [28]

^cAll subjects, identified through the screening programme, of which LDL-C was measured at the moment of genetic screening (done since 2003); for subjects on lipid-lowering medication, pre-treatment LDL-C levels were estimated with correction for treatment potency [15]

^dSubjects identified through the screening programme without lipid-lowering medication at the moment of genetic testing