Table 1. Rare variants(MAFeur1000g < 0.01)identified in NF1type1-microdeletion patients
PatientID	Gene	Exon	dbSNP build 154	Nucleotide variation	Protein variation
N22	A2ML1 NM_001282424.2	16	rs200964353	c.1796G>A	p.Gly599Asp
N22	CPD NM_001199775.1	19	-	c.2929G>A	p.Gly977Arg
N26	RNF135 NM_032322.4	5	rs61749868	c.1245G>T	p.Trp415Cys
N27	GAB2 NM_012296.3	4	rs561641037	c.862A>T	p.Ile288Phe
N27	RASAL1 NM_001193521.1	16	rs142556970	c.1804T>C	p.Phe602Leu
N28	PHF12 NM_001033561.2	8	-	c.1246C>G*	p.His416Asp
N43	RAF1 NM_002880.3	17	-	c.1811C>G	p.Ser604Cys
N75	RASAL2 NM_004841.4	6	-	c.898C>G*	p.Gln300Glu
N75	RASA1 NM_002890.3	20	-	c.2656C>T	p.Pro886Ser
N76	SARM1 NM_015077.4	9	rs144613221	c.1498T>C	p.Tyr500His
N80	LRP1 NM_002332.3	51	rs962402779	c.8218G>A	p.Glu2740Lys
N80	PAK4 NM_001014834.3	3	-	c.449A>G*	p.Gln150Arg
N82	RASAL3 NM_022904.3	13	-	c.1983G>A*	p.Met661Ile
N83	GAB2 NM_012296.3	3	rs770269898	c.350A>G	p.Glu117Gly