Papers
RefSeq ID
Protein change
DNA change
1–12 of 81 variants
NM_006575.6
p.T633M
c.1898C>T
NM_006575.6
p.R265fs
c.793_794fs
NM_006575.6
p.P407L
c.1220C>T
NM_006575.6
p.K571R
c.1712A>G
NM_006575.6
p.R13R
c.37A>C
NM_006575.6
p.Q17H
c.51G>C
NM_006575.6
p.Y20Y
c.60C>T
NM_006575.6
p.Y31*
c.93C>G
NM_006575.6
p.Y31*
c.93C>A
NM_006575.6
p.R38T
c.113G>C
NM_006575.6
p.E44K
c.130G>A
NM_006575.6
p.G43_A46delins
c.128_137delinsC