Papers
RefSeq ID
Protein change
DNA change
1–12 of 29 variants
NM_017908.4
p.N192H
c.574A>C
NM_017908.4
p.E210*
c.628G>T
NM_017908.4
p.P324L
c.971C>T
NM_017908.4
p.W343*
c.1028G>A
NM_017908.4
p.W343*
c.1029G>A
NM_017908.4
p.P4L
c.11C>T
NM_017908.4
p.L27L
c.81C>A
NM_017908.4
p.Q56*
c.166C>T
NM_017908.4
p.S93G
c.277A>G
NM_017908.4
p.S146F
c.437C>T
NM_017908.4
p.V172F
c.514G>T
NM_017908.4
p.Q249H
c.747G>C