Table 2. Summary of the pathways in which mutated genes in our SMZL cohort can be found and their predicted functional consequences.

DAVID Pathway	Genes	Accession numbers	Variant nomenclature		SIFT score prediction	Polyphen-2 score prediction	Case no2.
			Nucleotide change	Amino acid change	consequences	consequences	1	2	3	4	5	6	7
MAP kinase	CACNA1E	NM_001205293	c.G1069C	p.E357Q	Damaging	Damaging				✓
	CACNA1H	NM_021098	c.391delG	p.E131fs	Truncating	Truncating			✓
	CACNA2D2	NM_001174051	c.2837delC	p.P946fs	Truncating	Truncating		✓
	FLNC	NM_001458	c.C3179T	p.P1060L	Damaging	Probably damaging					✓
	MAP3K14	NM_003954	c.C200G	p. A67G	Truncating	Truncating				✓	✓
	MAPK8IP3	NM_001040439	c.743delA	p.Q248fs	Truncating	Truncating		✓
	RASA1	NM_002890	c.C142A	p. P48T	Damaging	Truncating						✓
	TAOK3	NM_016281	c.438-7-T)	Splicing1	Truncating	Truncating		✓
Notch	NOTCH2	NM_024408	c.C7081T	p.Q2361X	Truncating	Truncating					✓
			c.6836delA	p.H2279fs	Truncating	Truncating	✓
	PIWIL3	NM_001008496	c.2242delA	p.T748fs	Truncating	Truncating		✓
	NOTCH4	NM_004557	c.C5877G	p.C1959W	Truncating	Damaging						✓
	MAML3	NM_018717	c.1513_1514del	p. 505_505del	Truncating	Truncating						✓
Cell cycle	CUL1	NM_003592	c.T469G	p.Y157D	Damaging	Probably damaging				✓
	CREBBP	NM_001079846	c.A4349G	p.Y1450C	Damaging	Truncating				✓		✓
	CDC27	NM_001114091	c.A701C	p. Y234S	Tolerated	Benign						✓
Cytokine-cytokine	FLT1	NM_002019	c.2594_splice	splicing	Truncating	Truncating	✓
receptor interaction	CRLF2	NM_022148	c.G340C	p.V114L	Tolerated	Probably damaging				✓

¹ The TRRAP mutation in case 5 occurred within a splice-site and is predicted to resulted in aberrant splicing

² Showed the presence (✓) and absence (white box) of each mutation in the patients in our series