Papers
RefSeq ID
Protein change
DNA change
1–12 of 25 variants
NM_153358.3
p.I43I
c.129A>T
NM_153358.3
p.E53fs
c.157_158fs
NM_153358.3
p.E82V
c.245A>T
NM_153358.3
p.T94T
c.282T>G
NM_153358.3
p.R111C
c.331C>T
NM_153358.3
p.R111H
c.332G>A
NM_153358.3
p.L112F
c.334C>T
NM_153358.3
p.K163Fs
c.487delinsACTFs
NM_153358.3
p.K167N
c.501A>C
NM_153358.3
p.K167N
c.501A>T
NM_153358.3
p.E189D
c.567A>C
NM_153358.3
p.E189D
c.567A>T