Papers
RefSeq ID
Protein change
DNA change
1–12 of 83 variants
NM_017679.5
p.R127K
c.380G>A
NM_017679.5
p.R124*
c.370C>T
NM_017679.5
p.Y242*
c.726T>A
NM_017679.5
p.Y242*
c.726T>G
NM_017679.5
p.R792C
c.2374C>T
NM_017679.5
p.E3delFs
c.8delA
NM_017679.5
p.V20A
c.59T>C
NM_017679.5
p.Q25*
c.73C>T
NM_017679.5
p.E56K
c.166G>A
NM_017679.5
p.D69N
c.205G>A
NM_017679.5
p.D72Splc
c.214+3A>G
NM_017679.5
p.N87S
c.260A>G