Table 1.

The information about SNPs of CUBN gene from the index patient including minor allele frequency (MAF) and inheritance from parents

Chromosome position	MAF	Base	Gene	Function	Type of mutation	ClinVar assessment	Inheritance
		(amino acid)
chr10:16961987	0.000077	c.6796C > T	CUBN	Nonsense	Germline	Not listed	Father
		(p.R2266X)
chr10:17026232	0.000077	c.4397G > A	CUBN	Missense	Germline	Not listed	Mother
		(p.C1466Y)
chr10:169	–	c.5153_5154delCT	CUBN	Frame shift	Germline	Not listed	Father
90531–16990533		(p.S1718X)
chr10:16961959	0.0013	c.6821 + 3A > G	CUBN	Splice variant	Germline	Not listed	Mother
		(splicing)