Treatment of pediatric intracranial dissecting aneurysm with clipping and angioplasty, and next-generation sequencing analysis: A case report and literature review

Table 1 Pathogenic variants found by American College of Medical Genetics guidelines

Chromosome	Position	Variation	REF	ALT	Function	Gene	SIFT	Mutation taster	CADD
1	47610522	rs570554271	C	T	Stopgain	CYP4A22	-	1, A	10.070978, 36
2	234637905	rs45625338	C	T	Missense	UGT1A3	0.0, D	1, D	2.458692, 19.20
8	145699712	-	G	A	Missense	FOXH1	0.0, D	1, D	6.334943, 29.3
9	136310917	rs78977446	C	T	Missense	ADAMTS13	0.081, T	1, N	0.962795, 10.45
11	17482222	rs185040406	C	T	Missense	ABCC8	0.07, T	0.777604, N	3.415216, 23.0
12	85266484	rs12424429	G	A	Missense	SLC6A15	0.295, T	0.975276, N	-
13	100518634	rs41281112	C	T	Stopgain	CLYBL	-	1, A	8.514350, 35
14	75514138	rs28756990	C	A	Missense	MLH3	0.034, D	1, N	2.798595, 21.4
16	3705465	rs77254040	C	G	Missense	DNASE1	0.007, D	1, D	3.289682, 22.8
18	29867688	rs3744921	T	C	Missense	GAREM1	0.22, T	0.999954, D	1.071666, 11.06
19	4157148	rs77002741	G	A	Missense	CREB3L3	0.169, T	1, N	1.858481, 15.34
19	39898667	rs3746083	C	T	Synonymous	ZFP36	-	-	-
22	50523267	rs184241759	C	T	Missense	MLC1	0.007, D	1, N	3.434483, 23.0

CADD score > 15 means that the variation affects protein function. ALT: Mutation-type; REF: Reference. A SIFT score indicates whether the variation is likely to cause changes in protein structure or function: D: Deleterious (sift ≤ 0.05); T: Tolerated (sift > 0.05). MutationTaster represents the effect of the mutation on the protein sequence: A: Disease_causing_automatic; D: Disease_causing; N: Polymorphism; P: Polymorphism_automatic.