Papers
RefSeq ID
Protein change
DNA change
1–12 of 61 variants
NM_054110.5
p.H417Q
c.1251C>A
NM_054110.5
p.H417Q
c.1251C>G
NM_054110.5
p.A432T
c.1294G>A
NM_054110.5
p.R8R
c.24G>A
NM_054110.5
p.L14H
c.41T>A
NM_054110.5
p.M28fs
c.82_83fs
NM_054110.5
p.M28delFs
c.83_84delTG
NM_054110.5
p.M29fs
c.85_86fs
NM_054110.5
p.M29delFs
c.86delT
NM_054110.5
p.T39P
c.115A>C
NM_054110.5
p.A48delFs
c.144delC
NM_054110.5
p.G62delFs
c.184delG