Papers
RefSeq ID
Protein change
DNA change
1–12 of 41 variants
NM_018056.4
p.V395I
c.1183G>A
NM_018056.4
p.R177*
c.529C>T
NM_018056.4
p.M1fs
c.1_2fs
NM_018056.4
p.R9K
c.26G>A
NM_018056.4
p.P20L
c.59C>T
NM_018056.4
p.G25fs
c.73_74fs
NM_018056.4
p.T58A
c.172A>G
NM_018056.4
p.F86L
c.256T>C
NM_018056.4
p.F86L
c.258C>A
NM_018056.4
p.F86L
c.258C>G
NM_018056.4
p.H110P
c.329A>C
NM_018056.4
p.H114N
c.340C>A