Papers
RefSeq ID
Protein change
DNA change
1–12 of 154 variants
NM_001669.4
p.W331*
c.992G>A
NM_001669.4
p.W331*
c.993G>A
NM_001669.4
p.G320D
c.959G>A
NM_001669.4
p.A282D
c.845C>A
NM_001669.4
p.F240C
c.719T>G
NM_001669.4
p.G175D
c.524G>A
NM_001669.4
p.C238F
c.713G>T
NM_001669.4
p.M176K
c.527T>A
NM_001669.4
p.G221S
c.661G>A
NM_001669.4
p.L166Q
c.497T>A
NM_001669.4
p.Q318H
c.954G>T
NM_001669.4
p.Q318H
c.954G>C