Table 2

Variants of uncertain significance in known and candidate BAVM genes

Patient	Inheritance	Zygosity	Chr	Position	Mutation type	Gene symbol	Ref transcript	Variant nomenclature	V_R/T_R	ExAC AF-East Asian	ExAC AF-total
AVM403	Maternal	Het	12	52308249	Missense	ACVRL1	NM_001077401.1	c.652 C > T (p.Arg218Trp)	46/81	0.0017	0.00036
AVM375	Maternal	Het	12	52309874	Missense	ACVRL1	NM_001077401.1	c.1103C>T(p.Pro368Leu)	41/76	0	0.0000083
AVM285	Paternal	Het	5	86564378	Missense	RASA1	NM_002890.2	c.110A>G(p.Lys37Arg)	23/53	0	0
AVM519	Paternal	Het	5	86564492	Missense	RASA1	NM_002890.2	c.224G>C(p.Gly75Ala)	48/99	0.0074	0.00058
AVM515	Paternal	Het	5	86564614	Missense	RASA1	NM_002890.2	c.346C>T(p.Leu116Phe)	112/117	0	0
AVM132	Paternal	Het	5	86649000	Missense	RASA1	NM_002890.2	c.1280G>A(p.Arg427Gln)	27/47	0.00012	0.000033
AVM028	Paternal	Het	5	86672720	Missense	RASA1	NM_002890.2	c.2207A>G(p.His736Arg)	77/160	0	0
AVM578	Paternal	Het	5	86685291	Missense	RASA1	NM_002890.2	c.2476G>A(p.Val826Met)	39/67	0.00023	0.000033
AVM359	Maternal	Het	9	130588074	Missense	ENG	NM_000118.3	c.589C>T(p.Arg197Trp)	18/41	0	0.000041
AVM511	Maternal	Het	2	203395591	Missense	BMPR2	NM_001204.6	c.1042G>A(p.Val348Ile)	17/36	0.0064	0.00045
Patients*	Paternal	Het	2	203417506	Missense	BMPR2	NM_001204.6	c.1481C>T(p.Ala494Val)	23/55 19/38	0.00058	0.000041
AVM235	Paternal	Het	2	203421066	Missense	BMPR2	NM_001204.6	c.2678G>A(p.Arg893Gln)	47/94	0	0.0000082
Patients†	Comhet	Het	11	117301521	Missense	DSCAML1	NM_031220.3	c.5783G>A(p.Arg1928His)	59/111; 46/106	0.0037	0.00028
Patients†	Comhet	Het	11	117308649	Missense	DSCAML1	NM _031220.3	c.4574 G > A (p.Arg1525His)	35/72; 25/56	0.0013	0.00013
AVM226	Comhet	Het	21	41465723	Missense	DSCAM	NM_001389.3	c.3775G>A(p.Val1259Ile)	41/85	0.0038	0.00032
AVM226	Comhet	Het	21	41539197	Missense	DSCAM	NM _001389.3	c.2966 A > T (p.Gln989Leu)	37/71	0	0
AVM144	Comhet	Het	4	87593517	Splice acceptor	PTPN13	NM_006264.2	c.116‐1G>A	39/99	0	0
AVM144	Comhet	Het	4	87622759	Missense	PTPN13	NM_006264.2	c.1000 T > A (p.Ser334Thr)	68/137	0.00035	0.000025

*Recurrent in AVM199 and AVM401.
†Recurrent in AVM106 and AVM285.
AF, allele frequency; BAVM, brain arteriovenous malformation; Het, heterozygous; Chr, chromosome; Comhet, compound heterozygous; ExAC, Exome Aggregation Consortium; Het, heterozygous; pLI, probability of loss-of-function intolerance; Ref, reference; V_R/T_R,variant reads/total reads.