Papers
RefSeq ID
Protein change
DNA change
1–12 of 14 variants
NM_032799.5
p.N238I
c.713A>T
NM_032799.5
p.R175W
c.523C>T
NM_032799.5
p.V199A
c.596T>C
NM_032799.5
p.P9S
c.25C>T
NM_032799.5
p.V54M
c.160G>A
NM_032799.5
p.P69S
c.205C>T
NM_032799.5
p.L105_Q106Splc
c.316-5C>T
NM_032799.5
p.R114C
c.340C>T
NM_032799.5
p.C127S
c.379T>A
NM_032799.5
p.C127S
c.380G>C
NM_032799.5
p.Q172L
c.515A>T
NM_032799.5
p.S188S
c.564C>A