Papers
RefSeq ID
Protein change
DNA change
1–12 of 113 variants
NM_002828.4
p.D182A
c.545A>C
NM_002828.4
p.C216G
c.646T>G
NM_002828.4
p.C216S
c.646T>A
NM_002828.4
p.C216S
c.647G>C
NM_002828.4
p.V234I
c.700G>A
NM_002828.4
p.E291*
c.871G>T
NM_002828.4
p.Y126N
c.376T>A
NM_002828.4
p.T171K
c.512C>A
NM_002828.4
p.L249M
c.745C>A
NM_002828.4
p.N250K
c.750C>G
NM_002828.4
p.N250K
c.750C>A
NM_002828.4
p.R288*
c.862C>T