Papers
RefSeq ID
Protein change
DNA change
1–12 of 32 variants
NM_018045.8
p.L29delFs
c.86_87delCA
NM_018045.8
p.L365I
c.1093T>A
NM_018045.8
p.W13L
c.38G>T
NM_018045.8
p.L29*
c.86T>A
NM_018045.8
p.L29fs
c.85_86fs
NM_018045.8
p.M32I
c.96G>T
NM_018045.8
p.M32I
c.96G>C
NM_018045.8
p.M32I
c.96G>A
NM_018045.8
p.T54M
c.161C>T
NM_018045.8
p.A63_T64Splc
c.189+7A>G
NM_018045.8
p.S68*
c.203C>G
NM_018045.8
p.S68*
c.203C>A