Papers
RefSeq ID
Protein change
DNA change
1–12 of 101 variants
NM_001227.5
p.D255E
c.765C>A
NM_001227.5
p.D255E
c.765C>G
NM_001227.5
p.Y230*
c.690C>G
NM_001227.5
p.V43delFs
c.128_129delTC
NM_001227.5
p.E128_E129del2
c.382_386del6
NM_001227.5
p.F181L
c.541T>C
NM_001227.5
p.F181L
c.543C>A
NM_001227.5
p.F181L
c.543C>G
NM_001227.5
p.D4E
c.12T>A
NM_001227.5
p.D4E
c.12T>G
NM_001227.5
p.E19A
c.56A>C
NM_001227.5
p.R28W
c.82C>T