Table 3. Clinical significance of mutations .

Mutation	rs Number	Clinical significance
R261Q	rs62508698	Pathogenic
R261X	rs5030850	Pathogenic
E280K	rs62508698	Pathogenic
P281L	rs5030851	Pathogenic
R241C	rs76687508	Pathogenic
R243X	rs5030846	Pathogenic
V399V	rs199475584	Pathogenic
IVS11+1G>C	rs62509015	Likely pathogenic