Papers
RefSeq ID
Protein change
DNA change
1–12 of 14 variants
NM_002475.5
p.R78*
c.232C>T
NM_002475.5
p.V79A
c.236T>C
NM_002475.5
p.G159R
c.475G>C
NM_002475.5
p.P3H
c.8C>A
NM_002475.5
p.K63R
c.188A>G
NM_002475.5
p.E74Q
c.220G>C
NM_002475.5
p.V79M
c.235G>A
NM_002475.5
p.M93V
c.277A>G
NM_002475.5
p.P100P
c.300C>T
NM_002475.5
p.L117ins1
c.350_351insCTT
NM_002475.5
p.A133V
c.398C>T
NM_002475.5
p.R138*
c.412C>T