Papers
RefSeq ID
Protein change
DNA change
1–12 of 67 variants
NM_005221.6
p.Q178P
c.533A>C
NM_005221.6
p.Q186H
c.558G>T
NM_005221.6
p.Q186H
c.558G>C
NM_005221.6
p.I192M
c.576C>G
NM_005221.6
p.E39*
c.115G>T
NM_005221.6
p.A84A
c.252C>G
NM_005221.6
p.Y161_L162insFs
c.482_485dup4
NM_005221.6
p.A163fs
c.487_488fs
NM_005221.6
p.N198T
c.593A>C
NM_005221.6
p.S234R
c.702C>A
NM_005221.6
p.N255I
c.764A>T
NM_005221.6
p.G3G
c.9A>G