Papers
RefSeq ID
Protein change
DNA change
1–12 of 222 variants
NM_020856.4
p.E469G
c.1406A>G
NM_020856.4
p.E40insFs
c.119_120dupAG
NM_020856.4
p.A65T
c.193G>A
NM_020856.4
p.G148S
c.442G>A
NM_020856.4
p.Q177*
c.529C>T
NM_020856.4
p.D242H
c.724G>C
NM_020856.4
p.R258C
c.772C>T
NM_020856.4
p.R258H
c.773G>A
NM_020856.4
p.A533T
c.1597G>A
NM_020856.4
p.G546fs
c.1636_1637fs
NM_020856.4
p.G565S
c.1693G>A
NM_020856.4
p.S567S
c.1701G>A