Papers
RefSeq ID
Protein change
DNA change
1–12 of 61 variants
NM_012205.3
p.W186*
c.558G>A
NM_012205.3
p.I37V
c.109A>G
NM_012205.3
p.T42S
c.124A>T
NM_012205.3
p.T42S
c.125C>G
NM_012205.3
p.W186*
c.557G>A
NM_012205.3
p.R43K
c.128G>A
NM_012205.3
p.P161insFs
c.483dupT
NM_012205.3
p.Y214C
c.641A>G
NM_012205.3
p.G235R
c.703G>C
NM_012205.3
p.H47Q
c.141C>G
NM_012205.3
p.H47Q
c.141C>A
NM_012205.3
p.R108Q
c.323G>A