Papers
RefSeq ID
Protein change
DNA change
1–12 of 204 variants
NM_007289.4
p.P156delFs
c.467delC
NM_007289.4
p.R448*
c.1342C>T
NM_007289.4
p.P156fs
c.466_467fs
NM_007289.4
p.C143Y
c.428G>A
NM_007289.4
p.G225A
c.674G>C
NM_007289.4
p.C621R
c.1861T>C
NM_007289.4
p.A422D
c.1265C>A
NM_007289.4
p.W24*
c.71G>A
NM_007289.4
p.W24*
c.72G>A
NM_007289.4
p.R68*
c.202C>T
NM_007289.4
p.T100fs
c.298_299fs
NM_007289.4
p.S147Splc
c.440-2A>C