Papers
RefSeq ID
Protein change
DNA change
1–12 of 72 variants
NM_017414.4
p.C64S
c.190T>A
NM_017414.4
p.C64S
c.191G>C
NM_017414.4
p.I60N
c.179T>A
NM_017414.4
p.W358Splc
c.1073+1G>A
NM_017414.4
p.Q218*
c.652C>T
NM_017414.4
p.Q21K
c.61C>A
NM_017414.4
p.T169M
c.506C>T
NM_017414.4
p.K3M
c.8A>T
NM_017414.4
p.C12delFs
c.35delG
NM_017414.4
p.C12ins1
c.35_36insGAA
NM_017414.4
p.A24delFs
c.72delA
NM_017414.4
p.D25N
c.73G>A