Papers
RefSeq ID
Protein change
DNA change
1–12 of 64 variants
NM_006492.3
p.L168V
c.502C>G
NM_006492.3
p.N203S
c.608A>G
NM_006492.3
p.D23_E24insFs
c.69_70ins28
NM_006492.3
p.R196W
c.586C>T
NM_006492.3
p.C110Y
c.329G>A
NM_006492.3
p.Y181*
c.543T>G
NM_006492.3
p.Y181*
c.543T>A
NM_006492.3
p.R183W
c.547C>T
NM_006492.3
p.T193_E194delFs
c.578_581del4
NM_006492.3
p.Q198_V199Splc
c.595-2A>T
NM_006492.3
p.A226V
c.677C>T
NM_006492.3
p.P3P
c.9C>T