Papers
RefSeq ID
Protein change
DNA change
1–12 of 159 variants
NM_002202.3
p.Q310*
c.928C>T
NM_002202.3
p.P168P
c.504A>G
NM_002202.3
p.K10Splc
c.28+17C>T
NM_002202.3
p.N252S
c.755A>G
NM_002202.3
p.H101R
c.302A>G
NM_002202.3
p.R123W
c.367C>T
NM_002202.3
p.E137*
c.409G>T
NM_002202.3
p.C45G
c.133T>G
NM_002202.3
p.A46G
c.137C>G
NM_002202.3
p.Q50*
c.148C>T
NM_002202.3
p.Y75*
c.225C>A
NM_002202.3
p.Y75*
c.225C>G