Papers
RefSeq ID
Protein change
DNA change
1–12 of 85 variants
NM_182632.3
p.Y319*
c.957C>G
NM_182632.3
p.Y319*
c.957C>A
NM_182632.3
p.G496R
c.1486G>A
NM_182632.3
p.G79S
c.235G>A
NM_182632.3
p.G496R
c.1486G>C
NM_182632.3
p.T32I
c.95C>T
NM_182632.3
p.Q249*
c.745C>T
NM_182632.3
p.P397T
c.1189C>A
NM_182632.3
p.T32delins
c.95_96delinsTC
NM_182632.3
p.E75K
c.223G>A
NM_182632.3
p.T91M
c.272C>T
NM_182632.3
p.A157A
c.471C>T