Papers
RefSeq ID
Protein change
DNA change
1–12 of 96 variants
NM_000559.3
p.S53F
c.158C>T
NM_000559.3
p.G57D
c.170G>A
NM_000559.3
p.G65G
c.195C>G
NM_000559.3
p.V68M
c.202G>A
NM_000559.3
p.R31Splc
c.93-110G>A
NM_000559.3
p.R31Splc
c.93-1G>A
NM_000559.3
p.T85T
c.255C>T
NM_000559.3
p.R31Splc
c.93-6T>C
NM_000559.3
p.R31Splc
c.93-1G>T
NM_000559.3
p.T76I
c.227C>T
NM_000559.3
p.K105_L106Splc
c.316-1G>A
NM_000559.3
p.E6K
c.16G>A