Papers
RefSeq ID
Protein change
DNA change
1–12 of 36 variants
NM_002853.4
p.G114D
c.341G>A
NM_002853.4
p.E281G
c.842A>G
NM_002853.4
p.A56_C58delFs
c.168_172del5
NM_002853.4
p.T104S
c.310A>T
NM_002853.4
p.T104S
c.311C>G
NM_002853.4
p.E125G
c.374A>G
NM_002853.4
p.K57fs
c.169_170fs
NM_002853.4
p.R83Q
c.248G>A
NM_002853.4
p.R109*
c.325C>T
NM_002853.4
p.M1I
c.3G>T
NM_002853.4
p.L3delFs
c.8delA
NM_002853.4
p.D10insFs
c.28_29insT