Papers
RefSeq ID
Protein change
DNA change
1–12 of 130 variants
NM_005995.5
p.K101T
c.302A>C
NM_005995.5
p.P97delFs
c.291delG
NM_005995.5
p.F98fs
c.292_293fs
NM_005995.5
p.Y111N
c.331T>A
NM_005995.5
p.R354Q
c.1061G>A
NM_005995.5
p.F98fs
c.292_293fs
NM_005995.5
p.L113P
c.338T>C
NM_005995.5
p.R163C
c.487C>T
NM_005995.5
p.A242T
c.724G>A
NM_005995.5
p.T285I
c.854C>T
NM_005995.5
p.G10D
c.29G>A
NM_005995.5
p.W27*
c.80G>A