Papers
RefSeq ID
Protein change
DNA change
1–12 of 62 variants
NM_022482.5
p.E289*
c.865G>T
NM_022482.5
p.T352insFs
c.1054dupA
NM_022482.5
p.Q275P
c.824A>C
NM_022482.5
p.E306_D307del1
c.918_920delGGA
NM_022482.5
p.T352fs
c.1054_1055fs
NM_022482.5
p.S89L
c.266C>T
NM_022482.5
p.A286S
c.856G>T
NM_022482.5
p.R406_H407insFs
c.1216_1219dup4
NM_022482.5
p.H407fs
c.1219_1220fs
NM_022482.5
p.A5T
c.13G>A
NM_022482.5
p.K11T
c.32A>C
NM_022482.5
p.N16K
c.48C>A