Papers
RefSeq ID
Protein change
DNA change
1–12 of 54 variants
NM_012467.4
p.S138F
c.413C>T
NM_012467.4
p.F288L
c.862T>C
NM_012467.4
p.F288L
c.864C>G
NM_012467.4
p.F288L
c.864C>A
NM_012467.4
p.Q23E
c.67C>G
NM_012467.4
p.C26Y
c.77G>A
NM_012467.4
p.S114_S115insFs
c.342_343insA
NM_012467.4
p.G170R
c.508G>C
NM_012467.4
p.G170R
c.508G>A
NM_012467.4
p.R193H
c.578G>A
NM_012467.4
p.G223R
c.667G>C
NM_012467.4
p.G223R
c.667G>A