Papers
RefSeq ID
Protein change
DNA change
1–12 of 55 variants
NM_001080456.5
p.T6delFs
c.17delG
NM_001080456.5
p.L7insFs
c.21dupC
NM_001080456.5
p.A179V
c.536C>T
NM_001080456.5
p.R195K
c.584G>A
NM_001080456.5
p.V208I
c.622G>A
NM_001080456.5
p.R490Q
c.1469G>A
NM_001080456.5
p.M1I
c.3G>T
NM_001080456.5
p.M1I
c.3G>C
NM_001080456.5
p.M1I
c.3G>A
NM_001080456.5
p.W5L
c.14G>T
NM_001080456.5
p.W5C
c.15G>T
NM_001080456.5
p.W5C
c.15G>C