Papers
RefSeq ID
Protein change
DNA change
1–12 of 71 variants
NM_006589.3
p.T300I
c.899C>T
NM_006589.3
p.G45_I46insFs
c.135_136insAA
NM_006589.3
p.F126Y
c.377T>A
NM_006589.3
p.L278F
c.834G>T
NM_006589.3
p.L278F
c.834G>C
NM_006589.3
p.R440K
c.1319G>A
NM_006589.3
p.P480L
c.1439C>T
NM_006589.3
p.R539L
c.1616G>T
NM_006589.3
p.R596K
c.1787G>A
NM_006589.3
p.R628H
c.1883G>A
NM_006589.3
p.M1I
c.3G>T
NM_006589.3
p.R25fs
c.73_74fs