Papers
RefSeq ID
Protein change
DNA change
1–12 of 25 variants
NM_001031672.4
p.R47K
c.140G>A
NM_001031672.4
p.R236H
c.707G>A
NM_001031672.4
p.D10N
c.28G>A
NM_001031672.4
p.R19Q
c.56G>A
NM_001031672.4
p.C29Y
c.86G>A
NM_001031672.4
p.R43*
c.127C>T
NM_001031672.4
p.R43delFs
c.129delT
NM_001031672.4
p.E49*
c.145G>T
NM_001031672.4
p.S65*
c.194C>A
NM_001031672.4
p.L72V
c.214C>G
NM_001031672.4
p.R96Q
c.287G>A
NM_001031672.4
p.G110S
c.328G>A