Papers
RefSeq ID
Protein change
DNA change
1–12 of 116 variants
NM_017750.4
p.G536R
c.1606G>C
NM_017750.4
p.G536R
c.1606G>A
NM_017750.4
p.A533V
c.1598C>T
NM_017750.4
p.F134delFs
c.402delA
NM_017750.4
p.F134fs
c.400_401fs
NM_017750.4
p.F134fs
c.400_401fs
NM_017750.4
p.Q256*
c.766C>T
NM_017750.4
p.A368T
c.1102G>A
NM_017750.4
p.A58Splc
c.173-2A>G
NM_017750.4
p.Q247R
c.740A>G
NM_017750.4
p.H284R
c.851A>G
NM_017750.4
p.R293*
c.877C>T