Papers
RefSeq ID
Protein change
DNA change
1–12 of 30 variants
NM_172365.3
p.T83I
c.248C>T
NM_172365.3
p.T92T
c.276A>C
NM_172365.3
p.D23fs
c.67_68fs
NM_172365.3
p.Q53*
c.157C>T
NM_172365.3
p.S88L
c.263C>T
NM_172365.3
p.S88S
c.264A>C
NM_172365.3
p.A97T
c.289G>A
NM_172365.3
p.C138Y
c.413G>A
NM_172365.3
p.M177V
c.529A>G
NM_172365.3
p.E185D
c.555A>C
NM_172365.3
p.E185D
c.555A>T
NM_172365.3
p.V208A
c.623T>C