Papers
RefSeq ID
Protein change
DNA change
1–12 of 14 variants
NM_173506.7
p.R7K
c.20G>A
NM_173506.7
p.R23Q
c.68G>A
NM_173506.7
p.L28L
c.82T>C
NM_173506.7
p.W45fs
c.133_134fs
NM_173506.7
p.W45delFs
c.135delC
NM_173506.7
p.M50I
c.150G>T
NM_173506.7
p.M50I
c.150G>C
NM_173506.7
p.M50I
c.150G>A
NM_173506.7
p.S86L
c.257C>T
NM_173506.7
p.R111W
c.331C>T
NM_173506.7
p.R111Q
c.332G>A
NM_173506.7
p.P143L
c.428C>T