Papers
RefSeq ID
Protein change
DNA change
1–12 of 74 variants
NM_001481.3
p.R334*
c.1000C>T
NM_001481.3
p.N238S
c.713A>G
NM_001481.3
p.R278H
c.833G>A
NM_001481.3
p.C309*
c.927C>A
NM_001481.3
p.R183*
c.547C>T
NM_001481.3
p.N276K
c.828C>A
NM_001481.3
p.N276K
c.828C>G
NM_001481.3
p.K337_V338Splc
c.1011+2T>C
NM_001481.3
p.Q357*
c.1069C>T
NM_001481.3
p.Q358R
c.1073A>G
NM_001481.3
p.M26I
c.78G>A
NM_001481.3
p.M26I
c.78G>C