Papers
RefSeq ID
Protein change
DNA change
1–12 of 46 variants
NM_015169.4
p.R191L
c.572G>T
NM_015169.4
p.Q116H
c.348G>C
NM_015169.4
p.Q116H
c.348G>T
NM_015169.4
p.N45fs
c.133_134fs
NM_015169.4
p.N267Y
c.799A>T
NM_015169.4
p.K311E
c.931A>G
NM_015169.4
p.A13V
c.38C>T
NM_015169.4
p.E29K
c.85G>A
NM_015169.4
p.Q33K
c.97C>A
NM_015169.4
p.D35Y
c.103G>T
NM_015169.4
p.P46H
c.137C>A
NM_015169.4
p.E60K
c.178G>A