Table 1.

EFL1 variant information

Gene	Chr: position GRCh37(hg19)	HGVS DNA reference	HGVS protein reference	Variant type	Predicted effect	Genotype	ClinVar accession	Inheritance
EFL1	Chr15: 82532896	NM_024580.5 c.379A>G	p.Thr127Ala	Substitution	Missense	Homozygous	SCV000746595.2	Maternal and paternal