Papers
RefSeq ID
Protein change
DNA change
1–12 of 94 variants
NM_003328.3
p.R45H
c.134G>A
NM_003328.3
p.K299R
c.896A>G
NM_003328.3
p.R336Q
c.1007G>A
NM_003328.3
p.S223T
c.667T>A
NM_003328.3
p.Y420F
c.1259A>T
NM_003328.3
p.I9M
c.27C>G
NM_003328.3
p.K41I
c.122A>T
NM_003328.3
p.Q44R
c.131A>G
NM_003328.3
p.Q52H
c.156A>T
NM_003328.3
p.G62D
c.185G>A
NM_003328.3
p.V64M
c.190G>A
NM_003328.3
p.S67A
c.199T>G