Table 1.

Variant table

Gene	Variant	Chr	HGVS DNA Ref.	HGVS protein Ref.	Variant type	Predicted effect	dbSNP ID	Genotype	ClinVar ID	Parent of origin	Observed effect
TP53	c.764_766delTCA (p.Ile255del)	17	NM_000546.5	NP_000537.3	3-nt in-frame deletion	Deletion	rs1064794309	Heterozygous	SCV000629866.1	De novo in proband's mother	Deletion in DBD impairs p53 transcriptional activity and protein folding