Table 2.

Summary of Mutations in PFE Patients

Nucleotide Change	Variant	Reference
c.64 C>T	Missense variant	This study
p.Ala22Val		Novel Mutation
c.313+32 A>G	(CTCF Binding Site)	rs113566258
c.1152 G>A	Synonymous variant	rs200475872
c.1593 Del C	Frame shift deletion	This study
p.(Pro532Leufs*)		Novel mutation
c.1765 T>C	Missense variant	This study
p.Trp589Arg		Novel mutation