Papers
RefSeq ID
Protein change
DNA change
1–12 of 139 variants
NM_000294.3
p.R44*
c.130C>T
NM_000294.3
p.W300*
c.899G>A
NM_000294.3
p.W300*
c.900G>A
NM_000294.3
p.E157K
c.469G>A
NM_000294.3
p.V106E
c.317T>A
NM_000294.3
p.D215N
c.643G>A
NM_000294.3
p.R32Splc
c.96-11G>A
NM_000294.3
p.Q83*
c.247C>T
NM_000294.3
p.R168*
c.502C>T
NM_000294.3
p.R185*
c.553C>T
NM_000294.3
p.R309Q
c.926G>A
NM_000294.3
p.L93delFs
c.277delC