Papers
RefSeq ID
Protein change
DNA change
1–12 of 78 variants
NM_000476.3
p.G64R
c.190G>A
NM_000476.3
p.G40R
c.118G>C
NM_000476.3
p.G40R
c.118G>A
NM_000476.3
p.G64R
c.190G>C
NM_000476.3
p.R128W
c.382C>T
NM_000476.3
p.R107*
c.319C>T
NM_000476.3
p.Y164C
c.491A>G
NM_000476.3
p.E46delFs
c.138delC
NM_000476.3
p.R97W
c.289C>T
NM_000476.3
p.Q101K
c.301C>A
NM_000476.3
p.R138H
c.413G>A
NM_000476.3
p.D140del1
c.418_419delGTC