Papers
RefSeq ID
Protein change
DNA change
1–12 of 28 variants
NM_016396.3
p.T46T
c.138C>T
NM_016396.3
p.D293E
c.879C>A
NM_016396.3
p.D293E
c.879C>G
NM_016396.3
p.D295N
c.883G>A
NM_016396.3
p.S59R
c.175A>C
NM_016396.3
p.S59R
c.177C>A
NM_016396.3
p.S59R
c.177C>G
NM_016396.3
p.T86A
c.256A>G
NM_016396.3
p.N94delFs
c.280delA
NM_016396.3
p.Q118delFs
c.352delC
NM_016396.3
p.Q118E
c.352C>G
NM_016396.3
p.K121K
c.363A>G