Papers
RefSeq ID
Protein change
DNA change
1–12 of 39 variants
NM_175872.5
p.R476W
c.1426C>T
NM_175872.5
p.A10delFs
c.28delC
NM_175872.5
p.A10fs
c.28_29fs
NM_175872.5
p.F16S
c.47T>C
NM_175872.5
p.L44M
c.130C>A
NM_175872.5
p.E71Q
c.211G>C
NM_175872.5
p.P92A
c.274C>G
NM_175872.5
p.R177W
c.529C>T
NM_175872.5
p.E214K
c.640G>A
NM_175872.5
p.G224V
c.671G>T
NM_175872.5
p.E242K
c.724G>A
NM_175872.5
p.K266Q
c.796A>C