Papers
RefSeq ID
Protein change
DNA change
1–12 of 32 variants
NM_006423.3
p.N70T
c.209A>C
NM_006423.3
p.V161A
c.482T>C
NM_006423.3
p.V185E
c.554T>A
NM_006423.3
p.A30P
c.88G>C
NM_006423.3
p.G31_E33del0
c.92_97del6
NM_006423.3
p.E36G
c.107A>G
NM_006423.3
p.P94T
c.280C>A
NM_006423.3
p.T92_L97del6
c.274_290del18
NM_006423.3
p.Y108*
c.324C>G
NM_006423.3
p.S127T
c.380G>C
NM_006423.3
p.S127N
c.380G>A
NM_006423.3
p.I138S
c.413T>G