Table 3.

Characteristics of FGFR1 missense variants found in patients with CPHD.

Variant	Signalling activity	Expression	Patients		Controls		References
n	Frequency (%)	n	Frequency (%)
p.Thr112Thr	NS	NS	103 a	3	268	0	(3)
p.Ser450Phe	⇊	=				0
p.Pro483Ser	⇊	=				0
p.Val102Ile	↓	NS	69	3	100	2	(23)
p.Ser107Leu	=	NS				1
p.Ser107Leu	=	NS	156	2	400	0	Present study
p.Arg448Trp	↓	NS				0
p.Pro772Ser	=	NS				1.25

NS, not studied; =, similar to the WT.

^aPatients with CPHD and/or SOD.