Table 3. Mutations identified within the CCM3 gene (NM_007217).

Pedigree	No. of affected individuals	Age at MRI	Exon/Intron	Nucleotide change	Mutation consequence	Predicted amino acid change	Condition
CV139	1		5	c.211delAa	Frameshift	p.Ser71AlafsX18	Pathogenic
CV127	1		IVS6	c.395+1G>Ca	Altered splice site	NA	Pathogenic
CV164b	1		IVS7	c.474+5G>A	Altered splice site	p.Asp133HisfsX10 [17]	Pathogenic
CV125	2		8	c.538dupAa	Frameshift	p.Tyr180AsnfsX3	Pathogenic

^aNew mutation non-previously reported.

^bSporadic patient.

NA: not available.