Papers
RefSeq ID
Protein change
DNA change
1–12 of 61 variants
NM_001970.5
p.T48N
c.143C>A
NM_001970.5
p.G106R
c.316G>A
NM_001970.5
p.G106R
c.316G>C
NM_001970.5
p.V108insFs
c.324dupA
NM_001970.5
p.R109G
c.325C>G
NM_001970.5
p.R109fs
c.325_326fs
NM_001970.5
p.P115S
c.343C>T
NM_001970.5
p.E122K
c.364G>A
NM_001970.5
p.K50R
c.149A>G
NM_001970.5
p.N78S
c.233A>G
NM_001970.5
p.R109*
c.325C>T
NM_001970.5
p.K47R
c.140A>G