Table 1.

Genotypes and functional in silico prediction of FGFR1 and PROKR2 variants found in patients.

Patient	Gene	Nucleotide change	Protein change	Functional domain	In silico prediction tools
Mutation Taster	SIFT	Polyphen-2
I	FGFR1	c.320C>T	p.Ser107Leu	Ig-like C2-type 1 domain	Disease-causing	Tolerated	Benign
II	F GFR1	c.1342C>T	p.Arg448Trp	Juxta-membrane domain	Disease-causing	Affects protein function	Probably damaging
III	FGFR1	c.2314C>T	p.Pro772Ser	C-terminal tail	Disease-causing	Tolerated	Benign
IV	FGFR1	c.2314C>T	p.Pro772Ser	C-terminal tail	Disease-causing	Tolerated	Benign
V	PROKR2	c.253C>T	p.Arg85Cys	First intracellular loop	Disease-causing	Affects protein function	Probably damaging
VI	PROKR2	c.743G>A	p.Arg248Glu	Third intracellular loop	Polymorphism	Tolerated	Benign