Table 2.

Detailed information of patients with the variants of CCM1, CCM2, and CCM3.

No.	Sex	Lesions number	Symptoms	Lesions location	Family	Gene	Site	Detail	Predictors score
20	Female	>200	Weakness	Cerebrum Spine	No	CCM1	Exon 18	1. c.1844G > Cc 2. c.1846delAb,c	P: 0.97, M: 0.99 S: 0.76 M: frameshift (1.0) S: frameshift (0.85)
40	Female	18	Seizure	Cerebrum	No	CCM1	Intron 8	c.485 + 1G > Cb,c	M: splice site (1.0) E: high impact
54	Male	4	Diplopia	Cerebrum Brainstem	No	CCM2	Exon 4	c.401_402insGCCCb,c	M: frameshift (1.0) S: frameshift (0.86)
57	Male	46	Headache	Cerebrum	Yesa	CCM1	Intron 13	c.1255-4_1255-2delGTAb	M: splice site (1.0) E: low impact
66	Female	13	Headache	Cerebrum	Yesa	CCM1		Same as Patient 57
67	Male	49	No symptom	Cerebrum	Yesa	CCM1		Same as Patient 57
69	Male	2	Weakness	Brainstem	No	CCM2	Exon 9	c.970G > A	P: 0.98, M: 0.99 S: 0.01

^aPatients from the same family.

^bPathogenic variants according to American College of Medical Genetics and Genomics standards and guidelines and online predictors including PolyPhen-2 (P, HumVar score >0.5 as deleterious), MutationTaster (M, probability value of disease causing), SIFT (S, score <0.05 as deleterious in a single amino acid change; confidence score in deletion and insertion variants), and Ensembl Variant Effect Predictor (E).

^cNovel variants found in our study.