Papers
RefSeq ID
Protein change
DNA change
1–12 of 75 variants
NM_000717.5
p.R14W
c.40C>T
NM_000717.5
p.R219S
c.655C>A
NM_000717.5
p.R69H
c.206G>A
NM_000717.5
p.N177K
c.531C>A
NM_000717.5
p.V234I
c.700G>A
NM_000717.5
p.L8L
c.24G>C
NM_000717.5
p.A12T
c.34G>A
NM_000717.5
p.K66_L67Fs
c.198_199delinsGFs
NM_000717.5
p.L67fs
c.199_200fs
NM_000717.5
p.L114S
c.341T>C
NM_000717.5
p.N177K
c.531C>G
NM_000717.5
p.Q254P
c.761A>C