Papers
RefSeq ID
Protein change
DNA change
1–12 of 168 variants
NM_138387.4
p.R253H
c.758G>A
NM_138387.4
p.G260R
c.778G>C
NM_138387.4
p.P44S
c.130C>T
NM_138387.4
p.Q277*
c.829C>T
NM_138387.4
p.L325R
c.974T>G
NM_138387.4
p.I70delFs
c.210delC
NM_138387.4
p.W73Splc
c.218+1G>A
NM_138387.4
p.N313fs
c.937_938fs
NM_138387.4
p.Y47*
c.141C>G
NM_138387.4
p.W59R
c.175T>A
NM_138387.4
p.W59R
c.175T>C
NM_138387.4
p.M116V
c.346A>G