Table 1.

Predicted and observed R338 variants (X:139561835-7)

Codon	Amino acid	Type of DNA change	Phenotype	Frequency*	References
gga	G	Transversion	Predicted to be mild hyperactive/wild type		This work
tga	Stop	Transition	Severe HB	9.46746E-6	38
aga	R	Transversion	Synonymous	5.45625E-5
cga	R		Wild type
caa	Q	Transition	FIX Shanghai		23
cta	L	Transversion	FIX Padua		2
cca	P	Transversion	Mild HB		5

*Variant table hF9 ENSG00000101981.