Table 1 Missense variants of SOS1.

Exon*	Nucleotide change		Amino acid change		Domain		Pathogenic change or polymorphism		Number of affected people
3	c.233T→G		F78C		HF		Possible polymorphism		1 sporadic case†
6	c.806T→G		M269R		DH		Pathogenic		1 sporadic case
6	c.806T→C		M269T		DH		Pathogenic		1 sporadic case
7	c.925G→T		D309Y		DH		Pathogenic		1 sporadic case
10	c.1294T→C		W432R		PH		Pathogenic		1 sporadic case
10	c.1297G→A		E433K		PH		Pathogenic		1 sporadic case
10	c.1300G→A‡		G434R		PH		Pathogenic		1 sporadic case
10	c.1322G→A		C441Y		PH		Pathogenic		1 sporadic case
10	c.[1431G→T; 1433C→T]§		[Q477H; P478L]		PH		Pathogenic		1 sporadic case
10	c.1433C→G		P478R		PH		Pathogenic		1 sporadic case
10	c.1654A→G		R552G		PH‐Rem linker		Pathogenic		2 sporadic cases, 1 familial observation¶
10	c.1655G→A		R552K		PH‐Rem linker		Pathogenic		1 sporadic case, 1 familial observation¶
10	c.1656G→T		R552S		PH‐Rem linker		Pathogenic		1 sporadic case, 1 familial observation¶
11	c.1867T→A		F623I		Rem		Pathogenic		1 sporadic case
12	c.1964C→T		P655L		Rem		Polymorphism		4 sporadic cases
13	c.2104T→C		Y702H		Rem		Pathogenic		1 sporadic case
16	c.2536G→A		E846K		Cdc25		Pathogenic		4 sporadic cases
19	c.2999G→A		S1000N		Cdc25		Probable polymorphism		1 sporadic case**

HF, histone‐like folds; DH, Dbl homology domain; PH, pleckstrin homology domain; Rem, Ras exchanger motif.

Novel variants are printed in bold type.

*Exon 1 refers to the exon containing the ATG starting codon; †unaffected mother carries the same variant; ‡novel nucleotide exchange predicting a known missense mutation on protein level; §both sequence changes occurred de novo on the same allele; ¶affected mother–child duo; **unaffected father carries the same variant.