Table 1.

Variant table

Gene	Chromosome (GRCh37)	HGVS DNA reference	HGVS protein reference	Variant type	Predicted effect	dbSNP ID	Genotype
MED13L	Chr 12: g.116413012C > T	c.5695G > A	p.Gly1899Arg	Substitution	Missense	n/a	Hetero zygous
TMLHE	Chr X: g.154743645del	c.638 + 2del	p.?	Deletion	Exon skipping	n/a	Hemi zygous