Table 3.

Prediction of pathogenicity of proteins with decreased stability as assessed by MutPred tool

Variant ID	AA	AA Position	MutPred Score
rs104894738	W/S	4	0.886**
rs1020946655	G/R	12	0.919**
rs1347436776	P/Q	20	0.613**
rs1347436776	P/L	20	0.569**
rs1048604111	P/T	26	0.577**
rs104894733	T/I	51	0.298
rs765738846	W/C	55	0.563**
rs374272157	P/L	64	0.407
rs104894736	P/T	70	0.586**
rs1446778772	W/R	74	0.531**
rs780365505	L/P	75	0.656**
rs938995045	P/T	143	0.312
rs768186118	P/H	183	0.231
rs1463899384	P/S	194	0.278

** Increased pathogenicity as predicted by MutPred [Score > 0.5 – pathogenic]