Papers
RefSeq ID
Protein change
DNA change
1–12 of 58 variants
NM_005716.4
p.T62A
c.184A>G
NM_005716.4
p.P50fs
c.148_149fs
NM_005716.4
p.R159H
c.476G>A
NM_005716.4
p.L187L
c.561G>A
NM_005716.4
p.A284A
c.852G>A
NM_005716.4
p.K292fs
c.874_875fs
NM_005716.4
p.K292insFs
c.875dupA
NM_005716.4
p.F319L
c.955T>C
NM_005716.4
p.F319L
c.957T>G
NM_005716.4
p.F319L
c.957T>A
NM_005716.4
p.K9E
c.25A>G
NM_005716.4
p.K9ins5
c.25_26ins15