Sporadic Cerebral Cavernous Malformations: Report of Further Mutations of CCM Genes in 40 Italian Patients

Table 2

CCM1, CCM2, and CCM3 polymorphisms.

	Exon	Sequence variation	Coding change	SNP reference
CCM1	10	c.989+63 C>G	Intronic	rs2027950
		IVS10+63 C>G
	16	c.1731−90 G>C	Intronic	rs58251940
		IVS15−90 G>C
	17	c.1980 A>G	p.V660V	rs11542682
CCM2	2	c.157 G>A	p.Val53Ile	rs2107732
	3	c.205−36 A>G	Intronic	rs2304689
		IVS2−36 A>G
	4	c.358 G>A	p.Val120Ile	rs11552377
	4	c.472+127 C>T	Intronic	rs73107990
		IVS4+127 C>T
	8	c.881 G>A	p.S294N	rs144648280
	8	c.915 G>A	p.Thr305Thr	rs2289367
	8	c.915+119 C>T	Intronic	rs2289369
		IVS8+119 C>T
CCM3	2	c.150 G>A	p.K50K	rs116154329
	3	c.268+53 C>T	Intronic	rs200180968
		IVS3+53 C>T