Table 1 Rare variants identified in both alleles of either RELN or VLDLR genes and in one allele of genes for Ca²⁺ channels in individuals with ASD.

From: Rare CACNA1H and RELN variants interact through mTORC1 pathway in oligogenic autism spectrum disorder

Patient ID	Gene	Region	Variant description	Relation	Inheritance
Brazilian cohort
F2688-1	RELN	Exonic	RELN:NM_005045:exon48:c.C7538G:p.S2513C	Proband	Father
	RELN	Exonic	RELN:NM_005045:exon48:c.C7634T:p.A2545V		Mother
	CACNA1H	Splicing	CACNA1H:NM_021098:exon13:c.2907 + 1G>A		De novo
F10832-1	VLDLR	Exonic	VLDLR:NM_003383:exon8:c.T1132C:p.Y378H	Proband	Father
	VLDLR	Exonic	VLDLR:NM_003383:exon13:c.G1901A:p.R634H		Mother
	CACNA2D4	Exonic	CACNA2D4:NM_172364:exon22:c.C2095T:p.L699F		Father
F11463-1	RELN	Exonic; Splicing	RELN:NM_005045:exon38:c.C5618T:p.T1873I	Proband	Father
	RELN	Exonic	RELN:NM_005045:exon42:c.G6343A:p.G2115S		Mother
	RYR3	Exonic	RYR3:NM_001036:exon20:c.G2486A:p.R829H		Mother

MSSNG cohort
1-1098-003	RELN	Exonic	RELN:NM_005045:exon39:c.G5961T:p.K1987N	Proband	Father/de novo
	RELN	Exonic	RELN:NM_005045:exon34:c.C5108G:p.P1703R		Mother
	RYR2	Exonic	RYR2:NM_001035:exon67:c.G9569A:p.R3190Q		Mother
2-1259-004	RELN	Exonic	RELN:NM_005045:exon54:c.C8795A:p.S2932Y	Affected sibling	NA
	RELN	Exonic	RELN:NM_005045:exon25:c.C3477A:p.N1159K		NA
	RYR1	Exonic	RYR1:NM_000540:exon29:c.C4213A:p.P1405T		NA
5-5057-003	RELN	Exonic	RELN:NM_005045:exon20:c.G2689A:p.D897N	Proband	Father
	RELN	Exonic	RELN:NM_005045:exon34:c.C5108G:p.P1703R		Mother
	ORAI1	Exonic	ORAI1:NM_032790:exon2:c.126_127insA:p.A42fs		Mother
7-0276-003	VLDLR	Exonic	VLDLR:NM_003383:exon14:c.G1967A:p.R656H	Proband	Father/de novo
	VLDLR	Exonic	VLDLR:NM_003383:exon10:c.G1313A:p.G438D		Father/de novo
	VLDLR	Exonic	VLDLR:NM_003383:exon3:c.A242G:p.N81S		Mother
	CACNA1B	Exonic	CACNA1B:NM_000718:exon21:c.A3370G:p.I1124V		Mother
AU2168301	RELN	Exonic	RELN:NM_005045:exon2:c.T334C:p.F112L	Proband	Father
	RELN	Exonic	RELN:NM_005045:exon34:c.C5108G:p.P1703R		Mother
	GRIN2C	Exonic	GRIN2C:NM_000835:exon2:c.C193T:p.L65F		Mother
AU3756301	RELN	Exonic	RELN:NM_005045:exon39:c.G5923A:p.G1975S	Proband	Father/de novo
	RELN	Exonic	RELN:NM_005045:exon48:c.C7580A:p.S2527Y		Mother
	CACNA2D4	Exonic	CACNA2D4:NM_172364:exon37:c.G3245A:p.C1082Y		Father/de novo
	CACNA1H	Exonic	CACNA1H:NM_021098:exon9:c.G1508A:p.R503H		Mother
AU4027306	RELN	Exonic	RELN:NM_005045:exon1:c.C59T:p.T20M	Affected sibling	Father
	RELN	Exonic	RELN:NM_005045:exon42:c.G6458A:p.G2153D		Mother
	CACNA1A	Exonic	CACNA1A:NM_001127222:exon46:c.C6772A:p.H2258N		De novo
	CACNB2	Exonic	CACNB2:NM_201571:exon14:c.C1891T:p.R631C		Father

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Table 1 Rare variants identified in both alleles of either RELN or VLDLR genes and in one allele of genes for Ca²⁺ channels in individuals with ASD.

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