Papers
RefSeq ID
Protein change
DNA change
1–12 of 20 variants
NM_130848.3
p.R117*
c.349A>T
NM_130848.3
p.T75P
c.223A>C
NM_130848.3
p.N97D
c.289A>G
NM_130848.3
p.G16S
c.46G>A
NM_130848.3
p.L26Q
c.77T>A
NM_130848.3
p.Q61fs
c.181_182fs
NM_130848.3
p.S107L
c.320C>T
NM_130848.3
p.H152Q
c.456C>G
NM_130848.3
p.H152Q
c.456C>A
NM_130848.3
p.L153I
c.457C>A
NM_130848.3
p.S167T
c.499T>A
NM_130848.3
p.P191S
c.571C>T