Papers
RefSeq ID
Protein change
DNA change
1–12 of 70 variants
NM_194314.3
p.Y886H
c.2656T>C
NM_194314.3
p.Y69N
c.205T>A
NM_194314.3
p.Y69*
c.207T>G
NM_194314.3
p.Y69*
c.207T>A
NM_194314.3
p.Y69delFs
c.207delA
NM_194314.3
p.V106I
c.316G>A
NM_194314.3
p.E141D
c.423A>T
NM_194314.3
p.E141D
c.423A>C
NM_194314.3
p.F164V
c.490T>G
NM_194314.3
p.D169H
c.505G>C
NM_194314.3
p.N176H
c.526A>C
NM_194314.3
p.E177K
c.529G>A