Papers
RefSeq ID
Protein change
DNA change
1–12 of 38 variants
NM_006229.4
p.E414D
c.1242G>C
NM_006229.4
p.E414D
c.1242G>T
NM_006229.4
p.L461P
c.1382T>C
NM_006229.4
p.T106I
c.317C>T
NM_006229.4
p.V123M
c.367G>A
NM_006229.4
p.A180P
c.538G>C
NM_006229.4
p.W270*
c.809G>A
NM_006229.4
p.W270*
c.810G>A
NM_006229.4
p.G397S
c.1189G>A
NM_006229.4
p.Y448Y
c.1344C>T
NM_006229.4
p.S48I
c.143G>T
NM_006229.4
p.R55H
c.164G>A