Papers
RefSeq ID
Protein change
DNA change
1–12 of 45 variants
NM_014484.5
p.A257T
c.769G>A
NM_014484.5
p.L109V
c.325C>G
NM_014484.5
p.R343*
c.1027C>T
NM_014484.5
p.Q459*
c.1375C>T
NM_014484.5
p.M1I
c.3G>A
NM_014484.5
p.Q36*
c.106C>T
NM_014484.5
p.S47L
c.140C>T
NM_014484.5
p.L72V
c.214C>G
NM_014484.5
p.H75Q
c.225C>A
NM_014484.5
p.G76A
c.227G>C
NM_014484.5
p.C84_V85insFs
c.252_253insC
NM_014484.5
p.P96delFs
c.287delC