Papers
RefSeq ID
Protein change
DNA change
1–12 of 59 variants
NM_173573.3
p.W3R
c.7T>C
NM_173573.3
p.W3R
c.7T>A
NM_173573.3
p.P442L
c.1325C>T
NM_173573.3
p.A44T
c.130G>A
NM_173573.3
p.T188M
c.563C>T
NM_173573.3
p.P43_A44insFs
c.129_130ins5
NM_173573.3
p.A44P
c.130G>C
NM_173573.3
p.A44V
c.131C>T
NM_173573.3
p.A44fs
c.130_131fs
NM_173573.3
p.Q53Splc
c.158+1G>T
NM_173573.3
p.A55V
c.164C>T
NM_173573.3
p.R71Q
c.212G>A