Papers
RefSeq ID
Protein change
DNA change
1–12 of 73 variants
NM_017545.3
p.D170N
c.508G>A
NM_017545.3
p.R84R
c.252C>T
NM_017545.3
p.E196E
c.588G>A
NM_017545.3
p.D214N
c.640G>A
NM_017545.3
p.G165D
c.494G>A
NM_017545.3
p.V313L
c.937G>T
NM_017545.3
p.V313L
c.937G>C
NM_017545.3
p.M1K
c.2T>A
NM_017545.3
p.L2I
c.4C>A
NM_017545.3
p.R4W
c.10C>T
NM_017545.3
p.R4Q
c.11G>A
NM_017545.3
p.Y11_E12insFs
c.33_34insC