Papers
RefSeq ID
Protein change
DNA change
1–12 of 30 variants
NM_005332.3
p.G52insFs
c.155_156ins4
NM_005332.3
p.R32Splc
c.96-1G>A
NM_005332.3
p.S2S
c.6T>C
NM_005332.3
p.L3L
c.9G>C
NM_005332.3
p.E7*
c.19G>T
NM_005332.3
p.R8G
c.22A>G
NM_005332.3
p.W15_A16insFs
c.45_46insG
NM_005332.3
p.K17T
c.50A>C
NM_005332.3
p.I18F
c.52A>T
NM_005332.3
p.T20A
c.58A>G
NM_005332.3
p.T20M
c.59C>T
NM_005332.3
p.G26G
c.78C>A