Papers
RefSeq ID
Protein change
DNA change
1–12 of 68 variants
NM_006832.3
p.G16V
c.47G>T
NM_006832.3
p.T513M
c.1538C>T
NM_006832.3
p.N131Splc
c.392-1G>A
NM_006832.3
p.P226insFs
c.676_677insC
NM_006832.3
p.S435L
c.1304C>T
NM_006832.3
p.R457C
c.1369C>T
NM_006832.3
p.G16R
c.46G>C
NM_006832.3
p.G16R
c.46G>A
NM_006832.3
p.V49V
c.147G>C
NM_006832.3
p.E50E
c.150G>A
NM_006832.3
p.D53Splc
c.157+77G>T
NM_006832.3
p.D53Splc
c.157+90G>C