Papers
RefSeq ID
Protein change
DNA change
1–12 of 43 variants
NM_006984.5
p.S131L
c.392C>T
NM_006984.5
p.N48K
c.144C>G
NM_006984.5
p.N48K
c.144C>A
NM_006984.5
p.M1T
c.2T>C
NM_006984.5
p.D73N
c.217G>A
NM_006984.5
p.P149R
c.446C>G
NM_006984.5
p.R80G
c.238A>G
NM_006984.5
p.K155Splc
c.465-1G>A
NM_006984.5
p.G165A
c.494G>C
NM_006984.5
p.P218delFs
c.653delC
NM_006984.5
p.P218fs
c.652_653fs
NM_006984.5
p.G107R
c.319G>A