Table 1.

Genomic analysis

Gene	Chromosome	HGVS DNA reference	HGVS protein reference	Variant type	Predicted effect	ClinGen/dbSNP	Genotype	ClinVar ID
APC	5	c.4666dupA	p.Thr1556AsnfsX3	De novo	Frameshift	428112/rs1114167560/	Heterozygous	SCV000691753.1