Papers
RefSeq ID
Protein change
DNA change
1–12 of 21 variants
NM_013293.5
p.S16P
c.46T>C
NM_013293.5
p.T22M
c.65C>T
NM_013293.5
p.S34T
c.100T>A
NM_013293.5
p.R70L
c.209G>T
NM_013293.5
p.H76Q
c.228C>G
NM_013293.5
p.H76Q
c.228C>A
NM_013293.5
p.S86L
c.257C>T
NM_013293.5
p.R93Q
c.278G>A
NM_013293.5
p.R95fs
c.283_284fs
NM_013293.5
p.R97*
c.289C>T
NM_013293.5
p.S100A
c.298T>G
NM_013293.5
p.V138L
c.412G>T