Table 1.

Variant information for ATRX and TP53 germline variants, which were present in both cases

Gene	Chromosome	HGVS coding DNA reference	HGVS protein reference	Variant type	Predicted effect	dbSNP/dbVar ID	Genotype	ClinVar ID
ATRX	Chr X:76856021	NM_000489:exon23: c.5579A>G	NM_000489:exon23: p.N1860S (p.Asn1860Ser)	Nonsynonymous SNV	Asn1860Ser	rs45439799	Heterozygous	VCV000011724.1
TP53	Chr 17:7577548	NM_000546:exon7:c.733G>A	NM_000546:exon7:p.G245S (p.Gly245Ser)	Nonsynonymous SNV	Gly245Ser	rs28934575	Heterozygous	VCV000012365.2

HGVS, Human Genome Variation Society; dbSNP, the Single Nucleotide Polymorphism database; dbVar the Database of Genomic Structural Variation.