Papers
RefSeq ID
Protein change
DNA change
1–12 of 45 variants
NM_001124758.3
p.D163N
c.487G>A
NM_001124758.3
p.W302*
c.905G>A
NM_001124758.3
p.W302*
c.906G>A
NM_001124758.3
p.A308V
c.923C>T
NM_001124758.3
p.S319del1
c.955_957delTCC
NM_001124758.3
p.P356Fs
c.1066_1067delinsTFs
NM_001124758.3
p.R530G
c.1588C>G
NM_001124758.3
p.C3insFs
c.7dupT
NM_001124758.3
p.C3insFs
c.7_8insGG
NM_001124758.3
p.E15*
c.43G>T
NM_001124758.3
p.A34S
c.100G>T
NM_001124758.3
p.G70fs
c.208_209fs