Papers
RefSeq ID
Protein change
DNA change
1–12 of 37 variants
NM_032038.3
p.E164K
c.490G>A
NM_032038.3
p.R517H
c.1550G>A
NM_032038.3
p.P295L
c.884C>T
NM_032038.3
p.G23A
c.68G>C
NM_032038.3
p.Q44R
c.131A>G
NM_032038.3
p.Q48_R49insFs
c.143_146dup4
NM_032038.3
p.I50fs
c.148_149fs
NM_032038.3
p.G81C
c.241G>T
NM_032038.3
p.E87Q
c.259G>C
NM_032038.3
p.E87A
c.260A>C
NM_032038.3
p.Q88*
c.262C>T
NM_032038.3
p.D94N
c.280G>A