Papers
RefSeq ID
Protein change
DNA change
1–12 of 46 variants
NM_030816.5
p.A285V
c.854C>T
NM_030816.5
p.T2_G3insFs
c.6_7insT
NM_030816.5
p.K17E
c.49A>G
NM_030816.5
p.L34L
c.102C>G
NM_030816.5
p.P73L
c.218C>T
NM_030816.5
p.L95V
c.283C>G
NM_030816.5
p.G97D
c.290G>A
NM_030816.5
p.A112T
c.334G>A
NM_030816.5
p.E118K
c.352G>A
NM_030816.5
p.V120I
c.358G>A
NM_030816.5
p.K122N
c.366G>C
NM_030816.5
p.T134K
c.401C>A