Papers
RefSeq ID
Protein change
DNA change
Selected Variant
NM_001159944.3
p.R291Q
c.872G>A
Surrounding Variants
NM_001159944.3
p.R306*
c.916C>T
NM_001159944.3
p.V314delFs
c.940_941delGT
NM_001159944.3
p.V314fs
c.940_941fs
NM_001159944.3
p.Q251*
c.751C>T
NM_001159944.3
p.E247*
c.739G>T
NM_001159944.3
p.E213K
c.637G>A
NM_001159944.3
p.K354M
c.1061A>T
NM_001159944.3
p.R362Splc
c.1085+3C>T
NM_001159944.3
p.Q378H
c.1134G>C
NM_001159944.3
p.Q378H
c.1134G>T
NM_001159944.3
p.R191Q
c.572G>A
NM_001159944.3
p.V182I
c.544G>A