Table 2.

Single nucleotide variants in genes related to cytoskeleton dynamics regulation in individuals F6136-1, F2688-1 and F7511-1.

Individual	Gene	Exonic function	AA change	CADD Rank	Exac Frequency	Brazilian Frequency
F6136	LPA	Nonsense SNV	LPA:NM_005577:exon29:c.G4599A:p.W1533x	35	4 × 10−5	N/A
	KRAS	Frameshift insertion	KRAS:NM_033360:exon5:c.555dupA:p.C186fs	—	N/A	1 × 10−3
	ARHGEF18	Missense SNV	ARHGEF18:NM_001130955:exon16:c.C2554A:p.Q852K	31	7 × 10−4	8 × 10−4
F2688	NRP2	Missense SNV	NRP2:NM_003872:exon8:c.G1255A:p.A419T	24.7	3 × 10−5	N/A
	APC2	Missense SNV	APC2:NM_005883:exon2:c.C17T:p.A6V	32	6 × 10−4	N/A
	CYFIP1	Missense SNV	CYFIP1:NM_014608:exon29:c.A3368T:p.E1123V	25.2	1 × 10−5	1 × 10−3
	EPHA1	Missense SNV	EPHA1:NM_005232:exon8:c.G1540A:p.V514I	22.7	1 × 10−4	N/A
F7511	ITGB6	Stopgain SNV	ITGB6:NM_000888:exon14:c.C2245T:p.R749X	40	8 × 10−6	N/A
	TRIO	Missense SNV	TRIO:NM_007118:exon57:c.C9247T:p.R3083C	24	7 × 10−4	1 × 10−3
	PIK3C2B	Missense SNV	PIK3C2B:NM_002646:exon15:c.G2248A:p.G750S	33	5 × 10−4	1 × 10−3
	DOCK7	Missense SNV	DOCK7:NM_001271999:exon40:c.G5071C:p.E1691Q	23.6	3 × 10−5	8 × 10−4
	PIK3R5	Missense SNV	PIK3R5:NM_001251852:exon9:c.T406C:p.F136L	26	8 × 10−4	8×10−4

Criteria adopted to select the variants: nonsense, frameshift, splicing or predicted damaging missense variants with a frequency in the population <0.01 (population frequencies were based on ExAC database and on an in-house database composed by 600 Brazilian individuals³⁸). Damage prediction was based on CADD-score²⁴. All the variants listed are present in heterozygosity in the individuals and were inherited from one of the parents. Parents carrying the same variants are not affected.