Table 4.

Rare variants identificated in exome sequencing from HSCR patients.

Gene	RefSeq	Location	Variants	rs	Patient IDa	Inheritance	Phenotype	1000G_MAF (phase 3) ALL	1000G_MAF (phase 3) EUR	EVS_MAF	ExAC_MAF	MGP_MAF	In silico prediction (SIFT /Polyphen2)
BBX	NM_020235	3:g.107466840 C > T; exon	c.779C > T:p.Ala260Val	rs150121801	3733b	Father	S-HSCR	0.0012	0.002	0.0012	0.0026	NA	T/B
		3:g.107435532 C > T; exon	c.241C > T:p.Arg81Trp	rs142400819	4086	Mother	S-HSCR (Familial)	0.0030	0.007	0.0030	0.0028	0,006	D/D
SULF1	NM_015170	8:g.70541785_70541787delAAC; exon	c.2155_2157delAAC:p.Asn720del	rs150178205	10943	Mother	L-HSCR	0.0038	N	0.0045	0.0009	0,002	Neutral/-
RAB10	NM_016131	2:g.26257138 C > T; UTR5	c.-340C > T	rs112783454	4949	Father	S-HSCR	0.0052	0.012d	N	N	0,008
		2:g.26257109_26257110delGA;UTR5	c.-369_-368delGA	rs745876590	4462b	Father	S-HSCR	Nc	N	N	N	NA
PPP2R2B	NM_181674	5:g.145979904 C > T; exon	c.1108G > A:p.Val370Ile	rs369931023	3485	Father	S-HSCR	0.0002	N	0.00008	0.00006	NA	T/B
		5:g.146017897 T > C; exon	c.905A > G:p.Asn302Ser	rs150981315	3708	Father	S-HSCR	N	N	0.0003	0.0004	NA	D/B
		5:g.145969279 G > C; UTR3	c.*231C > G	rs141447016	3364	Mother	L-HSCR	0.0038	0.007	N	N	NA
CDK5RAP2	NM_018249	9:g.123334309 G > T; exon	c.70C > A:p.Pro24Thr		3606	Father	S-HSCR	N	N	N	N	NA	T/B
		9:g.123216045 T > C; exon	c.2482 A > G:p.Lys828Glu	rs549081765	8079	Mother	S-HSCR	0.0004	N	N	0.0002	NA	T/B
		9:g.123253661 T > C; exon	c.1406 A > G:p.Asn469Ser	rs754779136	8079	Father	S-HSCR	N	N	N	0.000008	NA	T/B
		9:g.123287277 G > A; exon	c.1079 C > T:p.Thr360Ile	rs145165171	10943	Father	L-HSCR	0.001	0.004	0.001	0.0009	0,002	T/B

^apatients with two different variants are in bold. ^bVariants also present in one sibling. ^cN means variant not present in the database (1000 Genomes, EVS, ExAC). ^dMAF > 0.01 in European population. NA: Not Available.